Search for a diagnostic test
370 Result(s)
Caption
: Accreditation
= ;

NOUVELLE AQUITAINE
BORDEAUX
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
Technique(s)
: Sanger sequencing, PCR based techniques

BRETAGNE
BREST
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

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
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

TOSCANA
FIRENZE
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)

Nordrhein-Westfalen
BOCHUM
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

Niedersachsen
GÖTTINGEN
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

Bayern
NEU-ULM
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

TIROL
INNSBRUCK
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

NOUVELLE AQUITAINE
POITIERS
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

Suisse Romande
GENÈVE
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

HAUTS-DE-FRANCE
LILLE
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

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

LIEGE
LIEGE
Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (gene panel)
CHU de Liège - UniLab Lg
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

ANTWERPEN
ANTWERPEN-EDEGEM
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)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (gene panel)
Erasme Hospital - ULB
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques

Sachsen
DRESDEN
Diagnosis of mitochondrial diseases (NGS screening panel, 107 genes)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Tartu
TARTU
Molecular diagnosis of deafness nonsyndromic sensorineural (GJB2, GJB3, GJB6, GJA1, SLC26A4, and SLC26A5 genes)
Genetics and Personalized Medicine Clinic - 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

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

GRAND-EST
REIMS
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 Robert Debré
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Deletion / Duplication analysis
Technique(s)
: PCR based techniques

Greater London
LONDON
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

HAINAUT
GOSSELIES
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

HAINAUT
GOSSELIES
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

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

OOST-VLAANDEREN
GENT
Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (gene panel)
Centrum Medische Genetica Gent - Universitair Ziekenhuis 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

Suisse Romande
LAUSANNE
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

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

Gelderland
NIJMEGEN
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

Gelderland
NIJMEGEN
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

Baden-Württemberg
FREIBURG
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

Sachsen
WEIßWASSER
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

South Glamorgan
CARDIFF
'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

Nordrhein-Westfalen
MÜNSTER
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

Bayern
MÜNCHEN
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

Bayern
MARTINSRIED/PLANEGG
Diagnosis of sensorineural deafness (GJB2, GJB6, MYH9, MYO7A, SIX1, SLC26A4 genes)
MVZ Martinsried GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

West Yorkshire
LEEDS
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

Baden-Württemberg
ULM
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

Tartu
TARTU
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)

Rheinland-Pfalz
MAINZ
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

Rheinland-Pfalz
MAINZ
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

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

Baden-Württemberg
MANNHEIM
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

Hamburg
HAMBURG
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

ANTWERPEN
ANTWERPEN-EDEGEM
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)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of mitochondrial non-syndromic sensorineural deafness (MT-TS1 gene)
Universitair Ziekenhuis Brussel
Purpose(s)
: Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Rheinland-Pfalz
INGELHEIM AM RHEIN
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

Rheinland-Pfalz
INGELHEIM AM RHEIN
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

Rheinland-Pfalz
INGELHEIM AM RHEIN
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

Gelderland
NIJMEGEN
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

Bayern
WÜRZBURG
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

Greater London
LONDON
'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

Region Västra Götaland
GÖTEBORG
Molecular diagnosis of autosomal recessive nonsyndromic sensorineural deafness type DFNB (GJB2 gene)
Sahlgrenska University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Baden-Württemberg
TÜBINGEN
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

Suisse Alémanique
ZÜRICH
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

Comunidad Valenciana
PATERNA
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

Nordrhein-Westfalen
DORTMUND
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

Niedersachsen
HANNOVER
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

Asturias
OVIEDO
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

Merseyside
LIVERPOOL
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

Merseyside
LIVERPOOL
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

Rheinland-Pfalz
INGELHEIM AM RHEIN
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

Baden-Württemberg
TÜBINGEN
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

Greater London
LONDON
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

Baden-Württemberg
TÜBINGEN
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

Bayern
WÜRZBURG
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

West Midlands
BIRMINGHAM
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

Gelderland
NIJMEGEN
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)

Gelderland
NIJMEGEN
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)

STEIERMARK
GRAZ
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

Greater London
LONDON
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

Bayern
MÜNCHEN
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

Baden-Württemberg
TÜBINGEN
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)

Ontario
TORONTO
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

Nordrhein-Westfalen
KÖLN
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

Bayern
MÜNCHEN
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)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
FREIBURG
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

Bayern
MARTINSRIED/PLANEGG
Diagnosis of mitochondrial deafness (MTCO1, MTRNR1, MTTS1 genes)
MVZ Martinsried GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Oxfordshire
OXFORD
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

Hamburg
HAMBURG
Diagnosis of sensorineural deafness (GJB2 gene)
UKE - Universitätsklinikum Hamburg-Eppendorf
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

Ontario
TORONTO
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

Manitoba
WINNIPEG
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

Manitoba
WINNIPEG
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

Suisse Alémanique
SCHLIEREN
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

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

Hamburg
HAMBURG
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

Niedersachsen
HANNOVER
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

Hamburg
HAMBURG
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

Ontario
TORONTO
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

Ontario
TORONTO
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

Niedersachsen
HANNOVER
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

Tartu
TARTU
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

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

Mecklenburg-Vorpommern
ROSTOCK
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

ILE-DE-FRANCE
BOULOGNE-BILLANCOURT
Diagnosis of autosomal non-syndromic sensorineural deafness (GJB2 and GJB6 genes)
AP-HP.Université Paris Saclay - 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

OCCITANIE
MONTPELLIER
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

Bayern
MÜNCHEN
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)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

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

Bayern
MÜNCHEN
Diagnosis of Gusher syndrome (POU3F4 gene)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ILE-DE-FRANCE
PARIS
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)

ILE-DE-FRANCE
PARIS
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)

ILE-DE-FRANCE
PARIS
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)

HAUTS-DE-FRANCE
LILLE
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)

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Diagnosis of mitochondrial diseases (Panel)
AP-HP.Université Paris Saclay - 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)

ILE-DE-FRANCE
PARIS
Diagnosis of mitochondrial diseases (Panel)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
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
Technique(s)
: NGS sequencing (except WES)

PROVENCE-ALPES-COTE D'AZUR
NICE
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)

NOUVELLE AQUITAINE
BORDEAUX
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)

PAYS DE LA LOIRE
ANGERS
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)

PAYS DE LA LOIRE
ANGERS
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)

Zuid-Holland
ROTTERDAM
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

Zuid-Holland
ROTTERDAM
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

Cataluña
L'HOSPITALET DE LLOBREGAT
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

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Diagnosis of mitochondrial diseases (exhaustive study of mtDNA by NGS and Surveyor technics)
AP-HP.Université Paris Saclay - 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

BRETAGNE
BREST
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)

Cataluña
L'HOSPITALET DE LLOBREGAT
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)

Cataluña
L'HOSPITALET DE LLOBREGAT
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)

Cataluña
L'HOSPITALET DE LLOBREGAT
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)

Cataluña
L'HOSPITALET DE LLOBREGAT
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)

Cataluña
L'HOSPITALET DE LLOBREGAT
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

Tartu
TARTU
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)

Bayern
MÜNCHEN
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)

Greater Manchester
MANCHESTER
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

Gelderland
NIJMEGEN
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

Tartu
TARTU
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)

AUVERGNE-RHONE-ALPES
GRENOBLE
Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (STRC gene)
CHU Grenoble Alpes
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: MLPA based techniques

OCCITANIE
MONTPELLIER
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

Sachsen
DRESDEN
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

HAUTS-DE-FRANCE
LILLE
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

Cataluña
L'HOSPITALET DE LLOBREGAT
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)

ANTWERPEN
ANTWERPEN-EDEGEM
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

ANTWERPEN
ANTWERPEN-EDEGEM
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)

ANTWERPEN
ANTWERPEN-EDEGEM
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

HAINAUT
GOSSELIES
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

HAINAUT
GOSSELIES
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

ILE-DE-FRANCE
PARIS
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)

HAUTS-DE-FRANCE
LILLE
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

NORMANDIE
CAEN
Diagnosis of mitochondrial diseases (first-line panel)
CHU de Caen - Hôpital de la Côte de Nacre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

NORMANDIE
CAEN
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

NORMANDIE
CAEN
Diagnosis of mitochondrial diseases by mutation 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

Sachsen
DRESDEN
Diagnosis of deafness (NGS screening panel, 82 Gene)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of mitochondrial diseases, nuclear based (gene panel)
Universitair Ziekenhuis Brussel
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ILE-DE-FRANCE
PARIS
Diagnosis of autosomal recessive non-syndromic sensorineural deafness type DFNB (GJB2, GJB6 and STRC genes)
Hôpital Necker-Enfants Malades
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, PCR based techniques, MLPA based techniques

NOUVELLE AQUITAINE
POITIERS
Diagnosis of non-syndromic genetic deafness (Panel)
CHU de Poitiers
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, MLPA based techniques

Nordrhein-Westfalen
MÖNCHENGLADBACH
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

West Midlands
BIRMINGHAM
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

Region Stockholm
STOCKHOLM
Diagnosis of nonsyndromic hereditary deafness due to connexin 26 anomalies
Karolinska Universitetssjukhuset - Solna
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

Nordrhein-Westfalen
MÖNCHENGLADBACH
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

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

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

Baden-Württemberg
SINGEN /HTWL.
Diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
MVZ Laborärzte Singen GbR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
SINGEN /HTWL.
Diagnosis of Gusher syndrome (POU3F4 gene)
MVZ Laborärzte Singen GbR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Castilla - León
SALAMANCA
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

NORTE
PORTO
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

NORTE
PORTO
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

NORTE
PORTO
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

Terre-Neuve-et-Labrador
ST. JOHN'S
Molecular Diagnosis of Nonsyndromic Hearing Loss (GJB2 c.35delG mutation)
Health Sciences Centre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Ontario
LONDON
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)

Ontario
LONDON
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)

Ontario
HAMILTON
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)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

TOSCANA
PISA
Diagnosis of non-syndromic sensorineural deafness (GJB2, GJB3, GJB6, COCH genes)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
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

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

Schleswig-Holstein
KIEL
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

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

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)

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)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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)

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

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

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

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)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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)

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

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

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

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

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

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

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

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

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

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

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, Whole Exome Sequencing (WES)

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, Whole Exome Sequencing (WES)

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, Whole Exome Sequencing (WES)

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)

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)

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)

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

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

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)

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

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

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

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

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

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)

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)

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

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

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

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)

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

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)

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

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)

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)

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)

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)

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)

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

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

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

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

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

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)

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)

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

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

Comunidad Valenciana
PATERNA
Diagnosis of mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies (panel)
Sistemas Genómicos S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

TOSCANA
PISA
Diagnosis of genetic hearing loss [panel of genes]
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

LOMBARDIA
CUSANO MILANINO
Diagnosis of autosomal dominant non-syndromic sensorineural deafness [panel of genes]
Istituto Auxologico Italiano
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

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

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

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

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

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

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

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

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

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

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

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)

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

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

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

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

NORTE
PORTO
Diagnosis of autosomal recessive non-syndromic sensorineural deafness (GJB2, GJB3 and GJB6 genes)
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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Capital City Prague
PRAHA
Molecular diagnosis of autosomal recessive nonsyndromic sensorineural deafness type DFNB (SLC26A4 gene)
University Hospital Motol
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

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

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

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)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

NORTE
PORTO