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FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation Diagnosis of genetic nonsyndromic deafness: search for mutations of GJB2, GJB3 and GJB6 genes
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, Array based techniques

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FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation Diagnosis of mitochondrial nonsyndromic sensorineural deafness (mutations MT-RNR1: A 1555G, MT-TS1: A 7445C)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

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FRANCE

OCCITANIE
TOULOUSE

Accreditation Diagnosis recessive nonsyndromic sensorineural deafness DFNB (GJB2, GJB6, SLC26A4 genes)
CHU de Toulouse - Hôpital Purpan
Purpose(s) : Post-natal diagnosis, Newborn screening
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing, PCR based techniques

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FRANCE

BRETAGNE
BREST

Accreditation Diagnosis of non syndromic deafness (GJB2, GJB6 genes)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation 'Diagnosis of nonsyndromic deafness DNFB type (GJB2 and OTOF gene mutations; GJB6 gene deletions)'
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing, PCR based techniques

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ITALY

TOSCANA
FIRENZE

Accreditation Molecular diagnosis of isolated deafness (CX26, CX30, OTOF genes)
Azienda Ospedaliero Universitaria Careggi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Niedersachsen
GÖTTINGEN

Accreditation Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Institut für Humangenetik der Universität Göttingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NEU-ULM

Accreditation Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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AUSTRIA

TIROL
INNSBRUCK

Accreditation Diagnosis of autosomal deafness (COCH, GJB2, GJB3, GJB6, KCNQ4, SLC26A4 gene)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

NOUVELLE AQUITAINE
POITIERS

Accreditation Diagnosis of autosomal recessive nonsyndromic sensorineural deafness type DFNB (GJB2 gene)
CHU de Poitiers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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SWITZERLAND

Suisse Romande
GENÈVE

Accreditation Diagnosis of deafness nonsyndromic (GJB2, GJB6 genes)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Methylation analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation Diagnosis of autosomal nonsyndromic sensorineural deafness (GJB2, GJB6 genes)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

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FINLAND

Finland
OULU

Accreditation Molecular diagnosis of sensorineural deafness: sequencing of the GJB2 gene
Oulu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation Diagnosis of Wolfram syndrome and autosomal dominant non-syndromic sensorineural deafness type DFNA (WFS1 gene)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Schleswig-Holstein
KIEL

Accreditation Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Sachsen
DRESDEN

Accreditation Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ESTONIA

Tartu
TARTU

Accreditation Molecular diagnosis of deafness nonsyndromic sensorineural (GJB2, GJB3, GJB6, GJA1, SLC26A4, and SLC26A5 genes)
Centre of Clinical Genetics - Tartu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

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UNITED KINGDOM

Tayside
DUNDEE

Accreditation Molecular diagnosis of Non-syndromic Deafness (GJB2 & GJB6 genes)
Ninewells Hospital and Medical School
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FRANCE

GRAND-EST
REIMS

Accreditation Diagnosis of autosomal dominant non-syndromic sensorineural deafness type DFNA due to connexin 26 and 30 anomaly (GJB2 and GJB6 genes)
CHU de Reims - Hôpital Maison Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : PCR based techniques

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UNITED KINGDOM

Greater London
LONDON

Accreditation Molecular diagnosis of deafness due to Connexin 26 anomaly (GJB2 gene)
Great Ormond Street Hospital for Children, York House
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FRANCE

CENTRE-VAL DE LOIRE
TOURS

Accreditation Diagnosis of Gusher syndrome (POU3F4 gene)
CHRU de Tours - Hôpital Bretonneau
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Molecular diagnosis of deafness, sensorineural, type 1 (Connexin 26 and 30)
Erasme Hospital - ULB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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BELGIUM

HAINAUT
GOSSELIES

Accreditation Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (gene panel)
Institut de Pathologie et de Génétique
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

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BELGIUM

HAINAUT
GOSSELIES

Accreditation Diagnosis of autosomal dominant non-syndromic sensorineural deafness type DFNA (COCH gene)
Institut de Pathologie et de Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

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BELGIUM

OOST-VLAANDEREN
GENT

Accreditation Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (gene panel)
Center for Medical Genetics Gent
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), PCR based techniques

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SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation Molecular diagnosis of Nonsyndromic Hearing Loss and Deafness due to connexin 26 anomaly (GJB2 gene)
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SWITZERLAND

Suisse Alémanique
BERN

Accreditation Diagnosis of Non syndromic hearing loss and deafness DFNA9 (COCH, GJB2 and GJB6 genes)
University Hospital Inselspital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis of Autosomal Dominant Deafness type 1, 2, 2B, 3, 3B, 6, 8, 9, 10, 11, 12, 13, 14, 15, 17, 20, 22, 26, 28, 36 and 69 (DIAPH1, KCNQ4, GJB3, GJB2, GJB6, WFS1, TECTA, COCH, EYA4, MYO7A, COL11A2, POU4F3, MYH9, ACTG1, MYO6, GRHL2, TMC1 and KITLG gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Diagnosis of Autosomal Recessive Deafness (GJB2, GJB6, MYO7A, MYO15A, SLC26A4, TMC1, TMPRSS3, OTOF, CDH23, GIPC3, STRC, USH1C, OTOG, TECTA, OTOA, PCDH15, RDX, GRXCR1, TRIOBP, CLDN14, MYO3A, ESRRB, MYO6, HGF, ILDR1, DFNB59, SLC26A5, LOXHD1, TPRN, PTPRQ, OTOGL, KARS, CABP2 and CLIC5 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
FREIBURG

Accreditation Diagnosis of sensorineural deafness (GJB2, GJB3, GJB6, MYH9, SLC26A4 genes)
Synlab MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Sachsen
WEIßWASSER

Accreditation Diagnosis of sensorineural deafness DFNA17 (MYH9 gene)
Praxis Dr. Mato Nagel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation 'Molecular diagnosis of Autosomal Recessive Neurosensory Deafness (DFNB1, GJB2 and GJB6 genes; mitochondrial m.1555A>G analysis)'
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

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GERMANY

Nordrhein-Westfalen
MÜNSTER

Accreditation Diagnosis of sensorineural deafness (GJB2, GJB3 and GJB6 genes)
Institut für Humangenetik des Universitätsklinikums Münster
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of sensorineural deafness (MYH14, WFS1 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Bayern
MARTINSRIED

Accreditation Diagnosis of sensorineural deafness (GJB2, GJB6, MYH9, MYO7A, SIX1, SLC26A4 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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UNITED KINGDOM

West Yorkshire
LEEDS

Accreditation Molecular diagnosis of DFNB1-caused Non-Syndromic Genetic Deafness (full GJB2 coding region sequencing, exon 1 splice site mutation analysis and GJB6 deletion analysis)
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

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GERMANY

Baden-Württemberg
ULM

Accreditation Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Universitätsklinikum Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ESTONIA

Tartu
TARTU

Accreditation Molecular screening of frequent diseases in Ashkenazi Jewish populations (panel)
Asper Biogene
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Rheinland-Pfalz
MAINZ

Accreditation Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Rheinland-Pfalz
MAINZ

Accreditation Diagnosis of mitochondrial deafness (MTRNR1 gene)
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FINLAND

Finland
HELSINKI

Accreditation Molecular diagnosis of non syndromic genetic deafness (GJB2 gene: 35delG mutation)
Yhtyneet Medix Laboratoriot
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Baden-Württemberg
MANNHEIM

Accreditation Diagnosis of sensorineural deafness (GJB2 and GJB6 genes: sequencing, MLPA)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Hessen
FRANKFURT AM MAIN

Accreditation Diagnosis of sensorineural deafness (GJB1, GJB2, GJB3, GJB4 and GJB6 genes: sequencing, MLPA)
bio.logis Zentrum für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GJB2 gene)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of mitochondrial non-syndromic sensorineural deafness
Universitair Ziekenhuis Brussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Diagnosis of autosomal recessive non syndromic sensorineural deafness (ATP2B2, CDH23, CIB2, CLDN14, CRYM, DFNB31, DFNB59, ESPN, ESRRB, GJB2, GJB6, GPSM2, HGF, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MYO15A, MYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH15, RDX, SERPINB6, SLC26A4, SLC26A4, STRC, TECTA, TMC1, TMIE, TMPRSS3, TRIOBP, TSPEAR, USH1C genes: sequencing, linkage analysis)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Diagnosis of autosomal dominant non syndromic sensorineural deafness (ACTG1, CCDC50, COCH, COL11A2, DIAPH3, DFNA5, DIAPH1, EYA4, GJB2, GJB3, GJB6, KCNQ4, MIRN96, MYH14, MYH9, MYO1A, MYO6, MYO7A, POU4F3, SLC17A8, TECTA, TFCP2L3, TMC1, WFS1, HGF genes: sequencing, linkage analysis)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Diagnosis of mitochondrial deafness (MTRNR1, MTTS1 genes)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis of X-linked Deafness type 2 and 4 (POU3F4 and SMPX gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
WÜRZBURG

Accreditation Diagnosis of sensorineural deafness (GJB2, GJB3, GJB6, STRC genes)
Universität Würzburg - Biozentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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UNITED KINGDOM

Greater London
LONDON

Accreditation 'Molecular diagnosis of Aminoglycoside-induced Deafness (m.1555A>G; MTRNR1 gene)'
Great Ormond Street Hospital for Children, York House
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of autosomal recessive non syndromic sensorineural deafness type DFNB (CDH23, DFNB31, GJA1, GJB2, GJB3, GJB6, GPSM2, MYO7A, OTOF, PCDH15, SLC26A4, SLC26A5, TECTA genes: sequencing)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation Diagnosis of autosomal nonsyndromic sensorineural deafness (GJB2 and GJB6 genes)
Genetica AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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SPAIN

Comunidad Valenciana
PATERNA

Accreditation Diagnosis of autosomal recessive nonsyndromic sensorineural deafness (GJB2 gene)
Sistemas Genómicos S.L.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation Diagnosis of sensorineural deafness (GJA1, GJB2 and GJB6 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Niedersachsen
HANNOVER

Accreditation Diagnosis of Gusher syndrome (POU3F4 gene)
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Asturias
OVIEDO

Accreditation Diagnosis of mitochondrial non-syndromic sensorineural deafness (MT-RNR1 gene / mutation A1555G)
Hospital Universitario Central de Asturias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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ITALY

SICILIA
CATANIA

Accreditation Molecular diagnosis of nonsyndromic sensorineural dafness (GJB2 gene)
LABOGEN S.a.S.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation Molecular diagnosis of Autosomal recessive nonsyndromic sensorineural deafness type DFNB (GJB2 and GJB6 genes)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation Molecular diagnosis of Autosomal dominant nonsyndromic sensorineural deafness type DFNA (GJB2 and GJB6 genes)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Diagnosis of Gusher syndrome (POU3F4 gene)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of autosomal dominant non-syndromic sensorineural deafness type DFNA (GJB2, GJB3, GJB6, MYH9, TECTA, WFS1 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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UNITED KINGDOM

Greater London
LONDON

Accreditation Molecular diagnosis of Gusher syndrome - X-linked Deafness (POU3F4 gene)
Great Ormond Street Hospital for Children, York House
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of X-linked non syndromic sensorineural deafness type DFN (PRPS1 gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
WÜRZBURG

Accreditation Diagnosis of deafness (NGS screening panel, 36 genes)
Universität Würzburg - Biozentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation Molecular diagnosis of Autosomal recessive nonsyndromic sensorineural deafness type DFNB (GJB2 gene)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Sachsen
DRESDEN

Accreditation Diagnosis of aminoglycoside-induced deafness (MTRNR1 gene: sequencing, MLPA)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis of Hearing Impairment (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Diagnosis of Metabolic Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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SPAIN

Castilla - León
SALAMANCA

Accreditation Diagnosis of autosomal nonsyndromic sensorineural deafness, dominant or recessive (GJB2 gene)
Hospital Clínico Universitario de Salamanca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : PCR based techniques

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AUSTRIA

STEIERMARK
GRAZ

Accreditation Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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UNITED KINGDOM

Greater London
LONDON

Accreditation Molecular diagnosis of Mitochondrial nonsyndromic sensorineural deafness (MT-RNR1 gene: m.1555A>G and by whole mitochondria genome sequencing)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of X-linked non syndromic sensorineural deafness type DFN (PRPS1 gene)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of mitochondriopathies (NGS screening panel, 396 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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CANADA

Ontario
TORONTO

Accreditation Molecular Diagnosis of Autosomal Recessive Non-syndromic Hearing Loss (by GJB2 sequencing, GJB6 MLPA)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of isolated deafness due to mitochondrial transmission (MT-RNR1, MT-TL1 and MT-TS1 known gene mutations)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation 'Diagnosis of autosomal dominant nonsyndromic sensorineural deafness type DFNA (COCH gene exons 4 and 5 ; WFS1 gene exon 8 ; TECTA, KCNQ4 genes)'
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of recessive non syndromic genetic deafness DFNB (OTOF: Q829X mutation, GJB2, GJB6, STRC, OTOGL, SLC26A4 and LHFPL5 genes)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of X-linked nonsyndromic sensorineural deafness type DFN (PRPS1 and SMPX genes)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation Diagnosis of sensorineural deafness (GJB2, GJB6, MYH9, SLC26A4 genes)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of autosomal dominant non syndromic sensorineural deafness (ACTG1, CCDC50, COCH, COL11A2, DFNA5, DIAPH1, EYA4, GJB2, GJB3, GJB6, GRHL2, KCNQ4, MIR96, MYH9, MYH14, MYO1A, MYO6, MYO7A, POU4F3, SIX1, SLC17A8, TECTA, TMC1, WFS1 genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
FREIBURG

Accreditation Diagnosis of X-linked non syndromic sensorineural deafness type DFN (PRPS1 gene)
Synlab MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
MARTINSRIED

Accreditation Diagnosis of mitochondrial deafness (MTCO1, MTRNR1, MTTS1 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation Molecular diagnosis of Aminoglycoside-Induced Deafness (MT-RNR1 gene: targeted mutation analysis m.1555A>G)
Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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CANADA

Ontario
TORONTO

Accreditation Molecular Diagnosis of Non-syndromic Mitochondrial Hearing Loss (MT-RNR-1, MT-TS1 targeted mutation analysis)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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CANADA

Manitoba
WINNIPEG

Accreditation Molecular Diagnosis of GJB2-related Sensorineural Hearing Loss (GJB2 sequencing)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

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CANADA

Manitoba
WINNIPEG

Accreditation Molecular Diagnosis of GJB6-related Sensorineural Hearing Loss (GJB6 sequencing)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

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SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation Molecular diagnosis of nonsyndromic deafness (GJB2 entire coding region)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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GERMANY

Bayern
MÜNCHEN

Accreditation Heterozygote screening by NGS Inherited Disease Panel (Kingsmore panel)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of aminoglycoside-induced deafness (MTRNR1 gene)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Niedersachsen
HANNOVER

Accreditation Diagnosis of autosomal recessive non syndromic sensorineural deafness type DFNB (CDH23, GJB2, GJB6, MYO7A, SLC26A4 genes)
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of Gusher syndrome (POU3F4 gene)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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CANADA

Ontario
TORONTO

Accreditation Molecular Diagnosis of Non-Syndromic X-Linked Hearing Loss (POU3F4 sequencing, MLPA)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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CANADA

Ontario
TORONTO

Accreditation Molecular Diagnosis of Hereditary Hearing Loss: Nonsyndromic/Common HL - NGS Panel (53 genes)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Array based techniques

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GERMANY

Niedersachsen
HANNOVER

Accreditation Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
amedes genetics im MVZ wagnerstibbe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ESTONIA

Tartu
TARTU

Accreditation Molecular diagnosis of aminoglycoside-induced deafness (MTRNR1 gene)
Asper Biogene
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Labor PD Dr. Volkmann und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation Diagnosis of sensorineural deafness (GJB2 gene)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

ILE-DE-FRANCE
BOULOGNE-BILLANCOURT

Accreditation Diagnosis of autosomal non-syndromic sensorineural deafness (GJB2 and GJB6 genes)
CHU Paris IdF Ouest - Hôpital Ambroise Paré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

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FRANCE

OCCITANIE
MONTPELLIER

Accreditation Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GJB2 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of autosomal rezessive non syndromic sensorineural deafness (BSND, CDH23, COL11A2, DFNB59, ESPN, ESRRB, GJB2, GJB3, GJB6, GRXCR1, HGF, KITLG, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MYO3A, MYO6, MYO7A, MYO15A, OTOA, OTOF, PCDH15, PJVK, PTPRQ, RDX, SERPINB6, STRC, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, WHRN genes)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of X-linked non syndromic sensorineural deafness type DFN (PRPS1 gene)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of Gusher syndrome (POU3F4 gene)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of mitochondrial diseases (Panel)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of deafness (Panel)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of leukodystrophies (Panel)
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation Diagnosis of deafness (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation Diagnosis of deafness (Panel)
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation Diagnosis of mitochondrial diseases (Panel)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of mitochondrial diseases (Panel)
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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FRANCE

GRAND-EST
REIMS

Accreditation Diagnosis of deafness (Panel)
CHU de Reims - Hôpital Maison Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation Diagnosis of mitochondrial diseases (Panel)
CHU de Nice - Hôpital l'Archet 2
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

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FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation Diagnosis of mitochondrial diseases (exhaustive study of mitochondrial DNA by NGS) (Panel)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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FRANCE

PAYS DE LA LOIRE
ANGERS

Accreditation Diagnosis of mitochondrial DNA maintenance syndrome (Panel)
CHU d'Angers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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FRANCE

PAYS DE LA LOIRE
ANGERS

Accreditation Diagnosis of mitochondrial diseases (Panel)
CHU d'Angers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Molecular diagnosis of Autosomal Dominant Non-Syndromic Deafness (WFS1 and COCH gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Molecular diagnosis of Autosomal Recessive Non-Syndromic Deafness (GJB2, GJB6 and SLC26A4 gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation Diagnosis of mitochondrial diseases (exhaustive study of mtDNA by NGS and Surveyor technics)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

CENTRE-VAL DE LOIRE
TOURS

Accreditation Diagnosis of X-linked non-syndromic sensorineural deafness type DFN (COL4A6 gene)
CHRU de Tours - Hôpital Bretonneau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

BRETAGNE
BREST

Accreditation Diagnosis of non-syndromic sensorineural deafness (Panel)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of mitochondrial diseases (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of X-linked deafness (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of neuromuscular channelopathies (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of hearing loss associated with vestibular disorders (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of MET gene
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

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ESTONIA

Tartu
TARTU

Accreditation Molecular diagnosis of sensorineural hearing loss (panel)
Asper Biogene
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of Mitochondriopathies (NGS screening panel, 243 genes)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation Molecular diagnosis of aminoglycoside-induced nonsyndromic sensorineural deafness (aminoglycosidase MT-RNR1 1555A>G)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Diagnosis of Auditory Neuropathy (DIAPH3 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ESTONIA

Tartu
TARTU

Accreditation Molecular diagnosis of mitochondrial diseases (panel)
Asper Biogene
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Accreditation Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (STRC gene)
CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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FRANCE

OCCITANIE
MONTPELLIER

Accreditation Diagnosis of non-syndromic genetic deafness (Panel)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, Array based techniques

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GERMANY

Sachsen
DRESDEN

Accreditation Diagnosis of mitochondrial deafness (MT-RNR1 gene)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation Diagnosis of X-linked non-syndromic sensorineural deafness type DFN (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (OTOA gene)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (OTOA gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation Diagnosis of autosomal dominant non-syndromic sensorineural deafness type DFNA (COCH gene, exons 4 and 5)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

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BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation Diagnostic of non-syndromic deafness (gene panel)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation Diagnosis of mitochondrial non-syndromic sensorineural deafness (MT-RNR1 gene, hot spot mutation - 1555A-G)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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BELGIUM

HAINAUT
GOSSELIES

Accreditation Diagnosis of mitochondrial non-syndromic sensorineural deafness and Xq21 microdeletion syndrome (POU3F4 gene)
Institut de Pathologie et de Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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BELGIUM

HAINAUT
GOSSELIES

Accreditation Diagnosis of mitochondrial non-syndromic sensorineural deafness (MT-RNR1 gene, hot spot mutation - 1555A-G)
Institut de Pathologie et de Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of isolated or syndromic deafness (Panel)
Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation Diagnosis of mitochondrial diseases by mitochondrial DNA mutation
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

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FRANCE

NORMANDIE
CAEN

Accreditation Diagnosis of mitochondrial diseases (exhaustive study of mitochondrial DNA by NGS)
CHU de Caen - Hôpital de la Côte de Nacre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

NORMANDIE
CAEN

Accreditation Diagnosis of mitochondrial diseases by mutataion of nuclear genes (Panel)
CHU de Caen - Hôpital de la Côte de Nacre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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GERMANY

Nordrhein-Westfalen
MÖNCHENGLADBACH

Accreditation Diagnosis of sensorineural deafness (GJB2 gene)
MVZ Dr. Stein + Kollegen Mönchengladbach
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation Molecular diagnosis of Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure (m.1555A>G in MTRNR1 gene)
Birmingham Children's Hospital NHS Foundation Trust
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics

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GERMANY

Nordrhein-Westfalen
MÖNCHENGLADBACH

Accreditation Diagnosis of aminoglycoside-induced deafness (MTRNR1 gene)
MVZ Dr. Stein + Kollegen Mönchengladbach
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SWEDEN

Region Västra Götaland
GÖTEBORG

Accreditation Molecular diagnosis of autosomal recessive nonsyndromic sensorineural deafness type DFNB (GJB2 gene)
Sahlgrenska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CZECH REPUBLIC

Plzen
PLZEN

Accreditation Molecular diagnosis of non syndromic genetic deafness type DFNB1 (GJB2 and GJB6 genes)
Genetika Plzen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation Diagnosis of autosomal dominant non syndromic genetic deafness (GJB2 and GJB6 genes)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

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GERMANY

Baden-Württemberg
SINGEN /HTWL.

Accreditation Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Institut für Laboratoriumsmedizin und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
SINGEN /HTWL.

Accreditation Diagnosis of Gusher syndrome (POU3F4 gene)
Institut für Laboratoriumsmedizin und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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PORTUGAL

NORTE
PORTO

Accreditation Molecular diagnosis of non-syndromic sensorineural deafness (GJB2, GJB3, GJB6 and WFS1 genes: sequencing of entire coding region and delection analysis by MLPA)
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : MLPA based techniques

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PORTUGAL

NORTE
PORTO

Accreditation Molecular diagnosis of mitochondrial nonsyndromic sensorineural deafness (MTRNR1 gene: sequencing of entire coding region and MTTS1 gene: targeted mutations (7445A>G, 7511T>C, 7510T>C, 7511C>C, 7472insC))
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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PORTUGAL

NORTE
PORTO

Accreditation Molecular diagnosis of non-syndromic congenital deafness (GJB6, SLC26A4, OTOF genes: Sequencing of entire coding region)
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation Molecular Diagnosis of Nonsyndromic Hearing Loss (GJB2 c.35delG mutation)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CANADA

Ontario
LONDON

Accreditation Molecular Diagnosis of Mitochondrial Disorder/Mt Depletion - NGS Panel (56 genes)
London Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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CANADA

Ontario
LONDON

Accreditation Molecular Diagnosis of Non-syndromic Genetic Deafness (GJB2, GJB6 NGS)
London Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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CANADA

Ontario
HAMILTON

Accreditation Molecular Diagnosis of Mitochondrial Disorder - Mt Genome NGS Panel (37 genes)
McMaster University Medical Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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ITALY

LIGURIA
GENOVA

Molecular diagnosis of deafness due to connexin types (GJA1,GJB6,GJB2 genes)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

PIEMONTE
TORINO

Molecular diagnosis of connexin 26 deafness (GJB2 gene)
A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

PIEMONTE
TORINO

Molecular diagnosis of isolated deafness due to mitochondrial transmission
A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Molecular diagnosis of connexin 26 anomaly (GJB2 gene)
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LOMBARDIA
MILANO

Molecular diagnosis of connexin 26 and 30 deafness (GJB6-D13S80)
Ospedale Maggiore Policlinico - Clinica Mangiagalli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Molecular diagnosis of nonsyndromic sensorineural deafness (GJB2, GJB6 genes)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Bayern
ERLANGEN

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

SARDEGNA
CAGLIARI

Molecular diagnosis of non-syndromic deafness (GJA1, GJB2, GJB3, GJB6 and MT-RNR1 genes)
Ospedale Regionale per le Microcitemie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Molecular diagnosis of connexines 26, 30 and 31 anomaly (GJB2, GJB3 and GJB6 genes)
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

VENETO
PADOVA

Diagnosis of non-syndromic genetic deafness [panel of genes]
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), PCR based techniques

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ITALY

VENETO
PADOVA

Diagnosis of isolated deafness due to mitochondrial transmission (MT-RNR1, MT-TS1 genes)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

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ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of non syndromic deafness due to connexines 26 and 30 (GJB2, GJB 6 genes)
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

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ITALY

LIGURIA
GENOVA

Molecular diagnosis of isolated deafness due to mitochondral transmission (MTRNR1,MTTS1 genes)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

TOSCANA
PISA

Diagnosis of isolated deafness due to mitochondrial transmission
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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ITALY

TOSCANA
PISA

Diagnosis of non syndromic deafness due to connexin anomalies (GJB2, GJB6 genes)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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ITALY

LAZIO
ROMA

Molecular diagnosis of deafness due to mitochondrial transmission (MTRNR1 gene)
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Bayern
REGENSBURG

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
MVZ Dr. Staber & Kollegen GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

LOMBARDIA
VARESE

Molecular diagnosis of nonsyndromic sensorineural deafness (GJA1, GJB2, GJB3, GJB6, MIR96 genes)
A.O.U. Ospedale di Circolo e Fondazione Macchi - Università dell'Insubria
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

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ITALY

LOMBARDIA
VARESE

Molecular diagnosis of isolated deafness, due to mitochondrial transmission
A.O.U. Ospedale di Circolo e Fondazione Macchi - Università dell'Insubria
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

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GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
BAD STEBEN

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of sensorineural deafness (GJB2, GJB3 and GJB6 genes)
Zotz|Klimas Standort Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SWITZERLAND

Suisse Alémanique
BASEL

Molecular diagnosis of recessive nonsyndromic sensorineural deafness DFNB1 (GJB2 and GJB6 genes)
Universitätsspital Basel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GREECE

ATTIKI
ATHENS

Molecular diagnosis of connexin 26 and 30 anomalies (GJB2 and GJB6 genes)
Diagnostic Genetic Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

VENETO
COSTOZZA DI LONGARE

Diagnosis of non syndromic deafness due to connexines 26 and 30 anomaly (GJB2 and GJB6 genes)
B.I.R.D. Foundation
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

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GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of autosomal recessive non syndromic neurosensory deafness type DFNB1 (GJB2 gene)
BURC Genetics Diagnostic Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

BASILICATA
MATERA

Postnatal molecular diagnosis of genetic nonsyndromic deafness (GJB2 and GJB6 genes)
Presidio Ospedaliero "Madonna delle Grazie" - Azienda Sanitaria di Matera (ASM)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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ITALY

LIGURIA
GENOVA

Molecular diagnosis of conductive deafness with stapes fixation (POU3F4 gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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ITALY

SICILIA
CATANIA

Molecular diagnosis of genetic nonsyndromic deafness, due to connexin 26 anomalies (GJB2 gene)
CPSS - Centro Polidiagnostico Servizi Sanitari
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Cataluña
BARCELONA

Diagnosis of the nonsyndromic genetic deafness autosomal recessive (GJB2 gene; SNP array)
Reprogenetics Spain S.A.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

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ITALY

LOMBARDIA
MONZA

Molecular diagnosis of non syndromic deafness due to connexin 26 anomalies (CX26 gene)
ASST Monza - Ospedale San Gerardo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of autosomal dominant non syndromic sensorineural deafness (CCDC50, COCH , COL11A2, DIAPH1, DFNA5, EYA4, GJB2, GJB3, GJB6, HGF, KCNQ4, MYH9, MYH14, MYO6, MYO7A, POU4F3, SIX1, TECTA, TMC1, WFS1 genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of autosomal recessive non syndromic sensorineural deafness (CIB2, GJB2, GJB3, GJB6, HGF, MYO15A, MYO3A, MYO7A, OTOF, PCDH15, SLC26A4, STRC, TMC1, TMIE , TRIOBP, USH1C genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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DENMARK

Syddanmark
VEJLE

Molecular diagnosis of non syndromic genetic deafness (frequent deletions in GJB2 and GJB6 genes detected by MLPA)
Sygehus Lillebaelt Vejle Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of aminoglycoside-induced deafness (MTRNR1 gene)
Zotz|Klimas Standort Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
NÜRNBERG

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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POLAND

Warszawa
WARSZAWA

Molecular diagnosis of non syndromic genetic deafness (GJB2 gene: 35delG, 313del14 and IVS1+1G>A mutations)
Instytut Matki i Dziecka
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

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TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of non syndromic genetic deafness (GJB2 gene)
Genetiks - Genetic diagnosis and research center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Madrid
MADRID

Diagnosis of mitochondrial non-syndromic sensorineural deafness (MT-RNR1 gene)
Hospital Universitario Ramón y Cajal
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

VENETO
PADOVA

Diagnosis of nonsyndromic genetic deafness (SLC26A4 gene)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

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SPAIN

Madrid
MADRID

Diagnosis of deafness, autosomal dominant, nonsyndromic, sensorineural, type DFNA (MYH9, ACTG1, COL11A2, CCDC50, DFNA5, KCNQ4 , DIAPH1, EYA4, POU4F3, GJB2, GJB6, TMC1, MYH14, TECTA, WFS1, MIR96, COCH genes)
Hospital Universitario Ramón y Cajal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Array based techniques

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SPAIN

Madrid
MADRID

Diagnosis of d.eafness, autosomal recessive, nonsyndromic, sensorineural, type DFNB (ESRRB, OTOF, LHFPL5, MYO7A, PCDH15, DFNB59, MARVELD2, GJB2, GJB6, MYO15A, TMIE, TMC1, TMPRSS3, CDH23, USH1C, TECTA, TRIOBP genes)
Hospital Universitario Ramón y Cajal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Array based techniques

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SPAIN

Cataluña
BARCELONA

Diagnosis of mitochondrial non-syndromic sensorineural deafness (MT-RNR1 gene)
Hospital Universitari Vall d'Hebron
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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ITALY

VENETO
COSTOZZA DI LONGARE

Diagnosis of non syndromic mithocondrial deafness with susceptibility to aminoglycoside exposure (MT-RNR1 gene)
B.I.R.D. Foundation
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

LOMBARDIA
MONZA

Diagnosis of non syndromic deafness due to connexin 26 (CX26 gene)
Synlab ITALIA srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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POLAND

Warszawa
WARSAW

Molecular diagnosis of non syndromic genetic deafness (GJB2 gene: 35delG, 310del14 and IVS1+1G>A as well as of the rare mutations in the coding region; frequent mutations in the GJB6 gene)
NZOZ GENOMED
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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POLAND

Poznan
POZNAN

Molecular diagnosis of non syndromic genetic deafness (GJB2 gene: mutations 35delG and 313del14)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Bremen
BREMEN

Diagnosis of sensorineural deafness (GJB2 gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

'Diagnosis of mitochondrial non-syndromic sensorineural deafness (MT-RNR1 gene / mutations A827G, T961C, T961delT+C(n)ins, T961insC, T961G, T1005C, A1116G, T1291C, T1243C, T1291C, C1494T and A1555G; gene MT-CO1 / mutations T7445C, A7443G, T7472insC and T7511C)'
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of autosomal recessive nonsyndromic sensorineural deafness type DFNB
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of autosomal dominant nonsyndromic sensorineural deafness type DFNA (GJB3, GJB2, GJB6, WFS1, COCH, COL11A2, MYH9, ACTG1, SIX1, TECTA genes: COHC gene / mutation P51S)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of X-linked non-syndromic sensorineural deafness (COL4A6, POU3F4, PRPS1, SMPX genes)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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SPAIN

Andalucía
SEVILLA

Diagnosis of autosomal recessive nonsyndromic sensorineural deafness type DFNB (GJB2 gene)
Hospital Universitario Virgen del Rocío
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

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SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of autosomal recessive nonsyndromic sensorineural deafness type DFNB (OTOF, GJB2, GJB6, MYO7A, MYO15A, SLC26A4, TMC1, CDH23, USH1C, TECTA, MYO3A, MYO6, HGF, PCDH15, COL11A2, TRIOBP, RDX, LOXHD1, PTPRQ, SLC26A5 genes)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of autosomal recessive nonsyndromic sensorineural deafness type DFNB (panel)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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GERMANY

Baden-Württemberg
ULM

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
MVZ Humangenetik Ulm GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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ITALY

LAZIO
ROMA

Molecular diagnosis of autosomal recessive nonsyndromic sensorineural deafness (GJB2 gene)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of autosomal dominant nonsyndromic sensorineural deafness type DFNA (panel)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of sensorineural deafness (GJB6 gene: hotspot)
Praxis für Humangenetik und Prävention
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of nonsyndromic sensorineural deafness, type DFNB (GJB2, GJB6 genes; OTOF gene / exon 22, mutation Q829X)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

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SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of mitochondrial non-syndromic sensorineural deafness (MT-RNR1 gene / mutation 1555G>A)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

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GERMANY

Sachsen
DRESDEN

Diagnosis of sensorineural deafness (COL11A2, GJB2,GJB6, TECTA genes)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

LAZIO
ROMA

Antenatal and postnatal molecular diagnosis of nonsyndromic sensorineural deafness (targeted mutation analysis of GJB2, GJB6 genes)
ASLRM1 - Centro per la tutela della Salute della Donna e del Bambino
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

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ITALY

LAZIO
ROMA

Molecular diagnosis of nonsyndromic deafness (GJB2, MT-RNR genes)
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

CAMPANIA
NAPOLI

Diagnosis of sensorineural deafness (GJB2, GJB6 genes)
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of aminoglycoside-induced deafness (MTRNR1 gene)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of non-syndromic sensorineural deafness (GJB2, GJB6, MIR96 genes)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of non-syndromic sensorineural deafness (ACTG1, GJB2, GJB6, COCH, DIAPH1, EYA4, KCNQ4, MYH9, TMC1, and TECTA genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
FREIBURG

Diagnosis of sensorineural deafness (GJA1, GJB2 and GJB6 genes)
Institut für Humangenetik am Universitätsklinikum Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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SPAIN

La Rioja
LOGROÑO

Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GJB2, GJB6, OTOF genes)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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SPAIN

La Rioja
LOGROÑO

Diagnosis of autosomal dominant non-syndromic sensorineural deafness type DFNA (GJB2, GJB6 genes)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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GREECE

GREECE
THESSALONIKI

Molecular diagnosis of autosomal nonsyndromic sensorineural deafness (GJB2 gene)
Eurogenetica SA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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POLAND

Warszawa
WARSAW

Molecular diagnosis of recessive non syndromic genetic deafness (GJB2 gene: 35delG, 310del14 and IVS1+1G>A as well as of the rare mutations in the coding region; frequent mutations in the GJB6 gene)
MEDGEN
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

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POLAND

Warszawa
WARSAW

Molecular diagnostics of mitochondrial nonsyndromic sensorineural deafness (MT-RNR1 gene)
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

'Molecular diagnosis of autosomal recessive nonsyndromic sensorineural deafness type DFNB (OTOF gene / gene and exons 11 ans 12 sequencing; GJB2 gene / entire coding sequence and mut. 35delG; GJB6 gene / entire coding sequence; SLC26A4 gene / entire coding sequence)'
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of mitochondrial nonsyndromic sensorineural deafness (MT-RNR1 gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of autosomal dominant nonsyndromic sensorineural deafness type DFNA (GJB2, GJB6 genes / entire coding sequence)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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SPAIN

Comunidad Valenciana
ALICANTE

Diagnosis of non-syndromic sensorineural deafness (GJB2 gene)
Instituto Bernabeu Biotech
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

SICILIA
AVOLA

Diagnosis of connexin 26 and 30 deafness (GJB2, GJB6 genes)
Laboratori Campisi s.r.l.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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GERMANY

Sachsen
DRESDEN

Diagnosis of X-linked non syndromic sensorineural deafness type DFN (PRPS1 gene: sequencing)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Hamburg
HAMBURG

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Asturias
OVIEDO

Diagnosis of genetic deafness (panel)
IMOMA - Instituto de Medicina Oncológica y Molecular de Asturias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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CANADA

Colombie-Britannique
VANCOUVER

Molecular Diagnosis of Non-Syndromic Sensorineural Hearing Loss (GJB2 sequencing, GJB6 targeted mutation analysis)
BC Women's Hospital and Health Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

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CANADA

Alberta
EDMONTON

Molecular Diagnosis of Aminoglycoside-Induced Ototoxicity
University of Alberta
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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CANADA

Alberta
EDMONTON

Molecular Diagnosis of Hereditary Nonsyndromic Deafness (GJB6 common deletions, GJB2 exon 2 sequencing)
University of Alberta
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

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GERMANY

Sachsen
DRESDEN

Diagnosis of Gusher syndrome (POU3F4 gene)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

TRENTINO ALTO ADIGE
MATTARELLO

Molecular diagnosis of connexin-related non-sydromic deafness (GJB6 and GJB2 genes by PCR and agarose gel electrophoresis; sequencing of GJB2 gene)
Centro Interdipartimentale per la Biologia Integrata (CIBIO)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

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ITALY

EMILIA ROMAGNA
MODENA

Molecular diagnosis of genetic deafness (amplification of 1-464 region in CX26 gene determined by PCR)
TEST s.r.l.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

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ITALY

VENETO
LIMENA

Molecular diagnosis of non-syndromic sensorineural deafness associated to connexin 26 and 30 deafness (CX26 and CX30 genes)
RDI - RETE DIAGNOSTICA ITALIANA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Nordrhein-Westfalen
AACHEN

Diagnosis of sensorineural deafness (GJB2 gene)
Zotz|Klimas Standort Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Sachsen
LEIPZIG

Diagnosis of sensorineural deafness (GJB2 gene)
Institut für Humangenetik am Universitätsklinikum Leipzig
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Praxis für Humangenetik und Prävention
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of autosomal dominant non-syndromic sensorineural deafness type DFNA (determined by Sanger sequencing and NGS)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (determined by Sanger sequencing and NGS)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of X-linked deafness (sequence analysis of the entire coding region of PRPS1, POU3F4, SMPX genes)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of mitochondrial non-syndromic sensorineural deafness (MT-CO1, MT-RNR1, MT-TH, MT-TS1 genes)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GJB2, OTOF, TECTA genes)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of autosomal dominant non-syndromic sensorineural deafness type DFNA (COCH, EYA4 genes)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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POLAND

Warszawa
WARSAW

DFNA9 - Identification of the p.Pro51Ser mutation and rare mutations in the exon 4 in the COCH gene
MEDGEN
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

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POLAND

Warszawa
WARSAW

DFNB9 - Analysis of the selected regions of the OTOF gene
MEDGEN
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

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HUNGARY

Közép-Magyarország
BUDAPEST

Non-syndromic sensorineural hearing loss (GJB2 and GJB6 genes)
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of mitochondrial diseases (gene panel)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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POLAND

Warszawa
WARSAW

Deafness - Analysis of the del/dupl with MLPA for the GJB2, GJB3, GJB6, WFS1, POU3F4 genes
MEDGEN
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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HUNGARY

Közép-Magyarország
DEBRECEN

Molecular diagnosis of syndromic and nonsyndromic deafness (GJB2, GJB3, GJB6 genes)
University of Debrecen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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AUSTRIA

SALZBURG
SALZBURG

Molecular diagnosis of autosomal, non-syndromic sensorineural deafness and KID syndrome (GJB2 gene)
Universitätsklinikum der Paracelsus Medizinischen Privatuniversität
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Hamburg
HAMBURG

Diagnosis of sensorineural deafness (NGS panel, 28 genes)
Gemeinschaftspraxis für Humangenetik GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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SPAIN

Madrid
MADRID

Diagnosis of mitochondrial non-syndromic sensorineural deafness (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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SPAIN

Madrid
MADRID

Diagnosis of non-syndromic sensorineural deafness (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of recessive diseases (panel, qCarrier Plus)
qGenomics
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Comunidad Valenciana
ALICANTE

Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GJB2 gene)
Hospital Clínica Vistahermosa
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GJB2, GJB6 genes)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

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SPAIN

Cataluña
BARCELONA

Diagnosis of hereditary hearing loss (panel)
Hospital de la Santa Creu i Sant Pau
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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SPAIN

La Rioja
LOGROÑO

Diagnosis of non-syndromic sensorineural deafness (panel)
Hospital San Pedro
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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SPAIN

Madrid
MADRID

Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GJB2, GJB6 genes)
Hospital Clínico San Carlos
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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SPAIN

Galicia
A CORUÑA

Diagnosis of cardiac diseases (panel - 380 genes)
Health In Code
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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ITALY

EMILIA ROMAGNA
PARMA

Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GJB2, GJB6 genes)
Azienda Ospedaliero-Universitaria di Parma
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of congenital deafness (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of autosomal dominant non-syndromic sensorineural deafness type DFNA (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Galicia
A CORUÑA

Diagnosis of mitochondrial disease (panel)
Health In Code
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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SPAIN

Galicia
A CORUÑA

Diagnosis of metabolic myopathies (panel - 113 genes)
Health In Code
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

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GERMANY

Hessen
FRANKFURT AM MAIN

Diagnosis of autosomal recessive non syndromic sensorineural deafness (NGS panel, 73 genes)
Senckenberg Zentrum für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Hessen
FRANKFURT AM MAIN

Diagnosis of autosomal dominant non-syndromic sensorineural deafness (NGS panel, 42 genes)
Senckenberg Zentrum für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of mitochondrial non-syndromic sensorineural deafness (MT-RNR1, MT-TH, MT-TS1, MT-CO1 genes)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Saarland
HOMBURG

Diagnosis of sensorineural deafness (GJB2 gene)
Bioscientia MVZ Labor Saar GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GJB2, GJB6 genes)
Hospital Clínico Universitario de Santiago
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

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SPAIN

Cataluña
BARCELONA

Diagnosis of mitochondrial disease (panel)
Hospital Universitari Vall d'Hebron
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
BARCELONA

Diagnosis of genetic deafness (panel)
Hospital Universitari Vall d'Hebron
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
BARCELONA

Diagnosis of non-syndromic sensorineural deafness type DFNA and type DFNB (GJB2 and GJB6 genes)
Hospital Universitari Vall d'Hebron
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

VENETO
PADOVA

Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (CLDN14 gene)
Research&Innovation S.r.l. (R&I Genetics)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

LAZIO
ROMA

Molecular diagnosis of connexin 26 deafness (GJB2 gene)
Centro Medico Artemisia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Molecular diagnosis of connexin 26 anomaly (GJB2 gene)
BIOS S.p.A.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

FRIULI VENEZIA GIULIA
TRIESTE

Molecular diagnosis of connexin 26 and 30 deafness (GJB2, GJB6 genes)
IRCCS Burlo Garofolo - Istituto per l'Infanzia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Diagnosis of deafness, isolated, due to mitochondrial transmission (MT-CO1, MT-RNR1 genes)
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Diagnosis of nonsyndromic deafness due to connexin anomalies 26, 30 and 31
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Niedersachsen
HILDESHEIM

Diagnosis of connexin 26 linked nonsyndromic deafness
Gemeinschaftspraxis Dres. Wilke / Graf / Lanowski
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LOMBARDIA
PAVIA

Molecular diagnosis of connexin 26 anomaly (GJB2 gene)
Fondazione IRCCS Policlinico San Matteo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

EMILIA ROMAGNA
BOLOGNA

Molecular diagnosis of connexin 26 and 30 anomaly (GJB2 and GJB6 genes)
Policlinico S. Orsola-Malpighi - Area S. Orsola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of nonsyndromic mitochondrial sensorineural deafness (MT-RNR1 gene / mutacion 1555A-G)
Instituto de Investigación Sanitaria Biodonostia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

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ITALY

LOMBARDIA
MILANO

Molecular diagnosis of non syndromic deafness due to connexin 26 anomaly (GJB2, GJB6 genes)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LOMBARDIA
MILANO

Molecular diagnosis of connexin 26 and 30 anomalies and genetic deafness (GJB2 and GJB6 genes)
ASST Grande Ospedale Metropolitano Niguarda
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of non-syndromic sensorineural deafness, types DFNA and DFNB (BSND, SIX1, MYO7A, MYH14, MYH9, SLC26A4, GJB2, and GJB6 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

PUGLIA
LECCE

Molecular diagnosis of connexines 26 and 30 anomalies
Presidio Ospedaliero "Vito Fazzi" - ASL LE
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GREECE

ATTIKI
ATHENS

Prenatal and postnatal molecular diagnosis of non-syndromic hearing impairement (GJB2 and GJB6 mutation screening)
Mitera General, Maternity and Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

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CYPRUS

Cyprus
NICOSIA

Full mutation analysis via sequencing of deafness due to connexin 26 (GJB2 gene 13q12.11)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

MARCHE
FANO

Molecular diagnosis of connexin 26 anomaly (GJB2 gene)
Associazione Cante di Montevecchio
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Molecular diagnosis of connexin 26 anomaly (GJB2 gene)
Istituto di Diagnostica Clinica Proda
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LOMBARDIA
BOSISIO PARINI

Diagnosis of non syndromic deafness (DNFB1) (GJB2 gene)
IRCCS "E. Medea"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

SICILIA
TROINA

Molecular diagnosis of deafness due to connexin 26 anomaly (GJB2 gene)
IRCCS OASI Maria Santissima
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Molecular diagnosis of deafness due to connexin 26 anomaly (GJB2 gene)
USI - Unione Sanitaria Internazionale
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CZECH REPUBLIC

South Moravia
BRNO

Molecular diagnosis of deafness due to connexin 26 anomaly (GJB2 gene)
University hospital Brno
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of deafness due to connexin 26 anomaly (GJB2 gene)
Gennet s.r.o.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of deafness due to connexin 26 anomaly (GJB2 gene)
Genexpress Ltd.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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TURKEY

TURKEY
ANKARA

Molecular diagnosis of autosomal recessive non syndromic neurosensory deafness type DFNB1 and DFNB3 (GJB2 gene)
Ankara University - Faculty of medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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PORTUGAL

NORTE
PORTO

Diagnosis of deafness X-linked 2, DFNX2 (POU3F4 gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

UMBRIA
PERUGIA

Molecular diagnosis of nonsyndromic deafness due to connexin 26 anomaly
Università degli Studi di Perugia - Ospedale S. Maria della Misericordia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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HUNGARY

Közép-Magyarország
BUDAPEST

Molecular diagnosis of nonsyndromic genetic deafness by PCR-RFLP (GJB2 gene)
Semmelweis University Hospital - 2nd Department of Paediatrics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

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ITALY

ABRUZZO
CHIETI

Molecular diagnosis of neurosensorial deafness (GJB2 gene)
Università degli Studi "G. D'Annunzio" - CESI-Met
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

FRIULI VENEZIA GIULIA
TRIESTE

Molecular diagnosis of genetic nonsyndromic deafness
IRCCS Burlo Garofolo - Istituto per l'Infanzia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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BULGARIA

 South-West region
SOFIA

Molecular diagnosis of nonsyndromic hereditary deafness due to connexin 26, 30, 31, 32 and 43 anomalies
GENICA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SWEDEN

Region Stockholm
STOCKHOLM

Molecular diagnosis of nonsyndromic hereditary deafness due to connexin 26 anomalies
Karolinska Universitetssjukhuset - Solna
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SLOVENIA

SLOVENIA
LJUBLJANA

Molecular diagnosis of Congenital hearing-loss (GJB2 gene)
University Medical Centre Ljubljana
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
HAIFA

Molecular diagnosis of Deafness non-syndromic (GJB2, GJB6, Mutation analysis)
Carmel Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
REHOVOT

Molecular diagnosis of non-syndromic hearing loss (GJB2, GJB6, Mutation analysis, Carrier detection)
Kaplan Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Deafness non-syndromic (GJB2, GJB6, Mutation analysis, PGD)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
RAMAT GAN

Molecular diagnosis of DFNB1 non-syndromic hearing loss (GJB2, GJB6, Mutation analysis, Carrier detection, PGD)
Sheba Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
RAMAT GAN

Molecular diagnosis of Deafness (mitochondrial) (MTRNR1)
Sheba Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of Non-syndromic hearing loss (GJB2, GJB6, Mutation analysis)
Rabin Medical Center - Beilinson Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Deafness Non Syndromic (GJB2, GJB6, Mutation analysis, PGD)
Shaare Zedek Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Non-syndromic hearing loss (GJB2, GJB6, Mutation analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ISRAEL

ISRAEL
HOLON

Molecular diagnosis of MTTS1-related hearing loss (MT-TS1, sequencing analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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LEBANON

Beyrouth
BEIRUT

Molecular diagnosis of non syndromic genetic deafness (complete GJB2 gene sequencing)
Université Saint-Joseph
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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HUNGARY

Dél-Dunántúl
PECS

Molecular diagnosis of non syndromic genetic deafness (GJB2 gene)
Clinical Center - University of Pécs
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LOMBARDIA
BRESCIA

Molecular diagnosis of non syndromic deafness due to connexines 26 and 30 (GJB2 and GJB6 genes)
Università degli Studi di Brescia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GREECE

ATTIKI
ATHENS

Molecular diagnosis of aminoglycoside-induced nonsyndromic deafness (MT-RNR1, MT-TS1 and MT-TL1 genes)
Institute of Child Health
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GREECE

ATTIKI
ATHENS

Molecular diagnosis of non syndromic genetic deafness (GJB2 gene sequencing and detection of common mutations)
Institute of Child Health
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

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POLAND

Warszawa
WARSAW

Molecular diagnosis of nonsyndromic genetic deafness (GJB2 and GJB6 genes)
Warszawski Uniwersytet Medyczny
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

EMILIA ROMAGNA
BOLOGNA

Molecular diagnosis of genetic deafness
Tecnobios Prenatale S.r.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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PORTUGAL

NORTE
PORTO

Molecular diagnosis of OTOF-related deafness
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SLOVENIA

SLOVENIA
MARIBOR

Molecular diagnosis of nonsyndromic genetic deafness
Maribor general hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of autosomal recessive nonsyndromic sensorineural deafness type DFNB (SLC26A4 gene)
Motol university hospital - 2nd Medical School Charles University Prague
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CZECH REPUBLIC

Olomouc
OLOMOUC

Molecular diagnosis of autosomal recessive nonsyndromic sensorineural deafness type DFNB (GJB2 gene)
University hospital Olomouc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CZECH REPUBLIC

Moravia-Silesia
OSTRAVA-PORUBA

Molecular diagnosis of non syndromic genetic deafness (GJB2 gene)
Laboratory of Forensic Genetics, Laborator forenzni genetiky, spol. s r.o.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Diagnosis of nonsyndromic sensorineural deafness, autosomal dominant (COCH gene)
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Nordrhein-Westfalen
BONN

Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
MVZ Institut für Klinische Genetik und Tumorgenetik Bonn GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of nonsyndromic neurosensorial deafness (GJB2 and GJB6 genes)
AOU Università degli Studi della Campania "Luigi Vanvitelli"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

TOSCANA
PISA

Molecular diagnosis of mithocondrial sensorineural deafness (mtDNA: MTCO1, MTRNR1, MTTS1genes)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Molecular diagnosis of nonsyndromic sensorineural deafness (GJB2 gene)
A.O. S. Andrea
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Nordrhein-Westfalen
BONN

Diagnosis of aminoglycoside-induced deafness (MTRNR1 gene)
MVZ Institut für Klinische Genetik und Tumorgenetik Bonn GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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PORTUGAL

NORTE
PORTO

Molecular diagnosis of nonsyndromic hearing loss and deafness (GJB6 and GJB2 genes)
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

SICILIA
MESSINA

Molecular diagnosis of autosomal dominant nonsyndromic sensorineural deafness type DFNA (WFS1 gene)
A.O.U. Policlinico "G. Martino"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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PORTUGAL

SUL
LISBOA

Molecular diagnosis of autosomal nonsyndromic sensorineural deafness type DFNA and DFNB (GJB2 and GJB6 genes)
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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NETHERLANDS

Limburg
MAASTRICHT

Molecular diagnosis of Nonsyndromic Sensorineural Deafness (GJB2 gene)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

País Vasco
DERIO

Molecular diagnosis of autosomal recessive nonsyndromic sensorineural deafness type DFNB (aCGH)
Genetadi Biotech S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LOMBARDIA
BRESCIA

Molecular diagnosis of mitochondrial nonsyndromic sensorineural deafness (TFB1M, MT-CO1, MT-RNR1, MT-TH and MT-TS1 genes)
Università degli Studi di Brescia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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LITHUANIA

DZUKIJA
VILNIUS

Molecular diagnosis of autosomal sensorineural deafness (GJB2 gene)
Vilnius University Hospital Santariskiu Klinikos
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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LITHUANIA

DZUKIJA
VILNIUS

Molecular diagnosis of mitochondrial nonsyndromic sensorineural deafness (mutations MT-RNR1: A1555G)
Vilnius University Hospital Santariskiu Klinikos
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Autosomal dominant sensorineural deafness type DFNA (gene GJB2 - direct sequencing of exons 1 and 2)
Slovak Academy of Sciences
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of autosomal recessive nonsyndromic sensorineural deafness type DFNB (gene GJB2 - direct sequencing of exons 1 and 2 and MLPA; gene GJB6 - MLPA analysis)
Slovak Academy of Sciences
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

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CANADA

Québec
MONTRÉAL

Molecular diagnosis of non syndromic genetic deafness - Connexin 26 and 30 (GJB2 gene/sequencing, complete coding regions + GJB6 gene/mutation 309kb del(GJB6-D13S1830) + 232kb del(GJB6-D13S1854))
Montreal Children's hospital - Hôpital de Montréal pour enfants
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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PORTUGAL

NORTE
PORTO

Molecular diagnosis of macrothrombocytopenia and progressive sensorineural deafness (MYH9 gene: sequencing of entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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SPAIN

Castilla - León
SALAMANCA

Diagnosis of non-syndromic sensorineural deafness (GJB6 gene)
IBSAL - Instituto de Investigación Biomédica de Salamanca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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CROATIA

CROATIA
ZAGREB

Molecular diagnosis of non syndromic genetic deafness type DFNB1 (sequencing/MLPA GJB2 and GJB6 genes)
Children's University Hospital Zagreb
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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PORTUGAL

NORTE
PORTO

Molecular diagnosis of Autosomal recessive nonsyndromic sensorineural deafness type DFNB4 (SLC26A4 gene: sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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MOROCCO

Rabat
RABAT

Molecular diagnosis of deafness due to connexin 26 anomalies (GJB2 gene / 35delG mutation)
Institut National d'Hygiène
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CYPRUS

Cyprus
NICOSIA

Analysis of known mutation for deafness due to connexin 26 (GJB2 gene 13q12.11)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

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CYPRUS

Cyprus
NICOSIA

Deletion analysis of deafness due to connexin 30 (GJB6 gene 13q12.11 / GJB6-D13S1830)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

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CYPRUS

Cyprus
NICOSIA

DNA storage/extraction of GJB2 and GJB6 for deafness due to connexin 26 and connexin 30 (GJB2 gene 13q12.11 and GJB6 gene 6p31.23)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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HUNGARY

Dél-Alföld
SZEGED

Sensorineural non-syndromic deafness
University of Szeged Deparment of Medical Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Madrid
MADRID

Diagnosis of PRPS1-related diseases (PRPS1 gene)
Hospital Universitario La Paz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

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