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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of neuropathy hereditary with liability to pressure palsies (PMP22 gene)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of neuropathy hereditary with liability to pressure palsies (PMP22 gene deletion or mutations)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of neuropathy hereditary with liability to pressure palsies (PMP22 gene)
CHU de Lille - Centre de Biologie Pathologie 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

FRANCE

NOUVELLE AQUITAINE
LIMOGES

Accreditation
Diagnosis of microdeletion microduplication syndromes
CHU de Limoges - Hôpital de la mère et de l'enfant
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH, Karyotyping

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 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, MLPA based techniques

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SWITZERLAND

Suisse Alémanique
BASEL

Accreditation
Molecular diagnosis of Hereditary Neuropathy with liability to Pressure Palsies (HNPP)
Universitätsspital Basel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Search for cryptic subtelomeric anomalies by array CGH
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
CHU de Liège - UniLab Lg
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
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

SPAIN

Comunidad Valenciana
PATERNA

Accreditation
Diagnosis of neuropathy hereditary with liability to pressure palsies. Indirect method (PMP22 gene)
Sistemas Genómicos S.L.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Molecular cytogenetics diagnosis (FISH) of neuropathy hereditary with liability to pressure palsies (HNPP): deletion in PMP22 gene
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

AUSTRIA

STEIERMARK
GRAZ

Accreditation
Diagnosis of Charcot-Marie-Tooth disease (AARS, DNM2, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, HK1, HSPB1, HSPB8, INF2, KARS, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF2, SH3TC2, SURF1, TRPV4, and YARS genes)
Medizinische Universität Graz
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

GERMANY

Sachsen
DRESDEN

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Diagnosis of Hereditary Neuropathy with liability to Pressure Palsies (HNPP): screening for deletion in 17p11.2-p12 including PMP22 gene + complete sequencing of PMP22 gene
Universität Zürich
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, MLPA based techniques

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene deletion)
Institut de Pathologie et de Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Universitätsklinikum Aachen
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

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of hereditary neuropathy with liabili: sequencing ty to pressure palsies (PMP22 gene)
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
NEU-ULM

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene, deletion 17p11.2)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, Array based techniques

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Diagnosis of chromosomal anomalies
Institut de Pathologie et de Génétique
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH, Karyotyping

SWITZERLAND

Suisse Alémanique
BERN

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Universitätsspital Inselspital
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

GERMANY

Nordrhein-Westfalen
BONN

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Universitätsklinikum Bonn (AöR)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Diagnosis of Hereditary Neuropathy with Liability to Pressure Palsies (PMP22 gene)
Amsterdam UMC, locatie AMC
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, MLPA based techniques

UNITED KINGDOM

Avon
BRISTOL

Accreditation
Molecular diagnosis of Hereditary Neuropathy with liability to Pressure Palsies (HNPP)
Southmead Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Molecular diagnosis of Hereditary Neuropathy with liability to Pressure Palsies (HNPP) (PMP22 gene: targeted mutation analysis)
Newcastle upon Tyne Hospitals NHS Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Hereditary Neuropathy with liability to Pressure Palsies (HNPP, PMP22 deletion and sequencing)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of hereditary motor and sensory neuropathy (NGS screening panel, 68 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of neuropathy hereditary with liability to pressure palsies : search for microdeletion of PMP22 gene
GH de l'Institut Catholique de Lille - Hopital Saint Vincent de Paul
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (gene panel)
Erasme Hospital - ULB
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

FRANCE

BRETAGNE
RENNES

Accreditation
Diagnosis of microdeletions and microduplications (by array-CGH)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

FRANCE

GRAND-EST
STRASBOURG

Accreditation
Diagnosis of Robertsonian and reciprocal translocations, other chromosomal anomalies and X-linked diseases
Hôpitaux Universitaires de Strasbourg - HUS
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

SWEDEN

Region Stockholm
STOCKHOLM

Accreditation
Diagnosis of neuropathy hereditary with liability to pressure palsies (PMP22 gene)
Karolinska Universitetssjukhuset - Solna
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of microdeletion syndromes and chromosomal imbalances (by FISH and array-CGH)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
FISH analysis of microdeletions / microduplications
CHU de Clermont-Ferrand - Hôpital d'Estaing
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

FINLAND

Finland
TURKU

Accreditation
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene deletion analysis)
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene: sequencing / MLPA)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

OCCITANIE
NÎMES

Accreditation
Diagnosis of chromosomal cryptic microrearrangements by array-CGH
CHU de Nîmes - Hôpital Carémeau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene: 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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation
Diagnosis of microdeletion syndromes (array-CGH)
CHU de Nice - Hôpital l'Archet 2
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis pangenomic of constitutional anomalies by molecular cytogenetic (FISH) and CGHarrays
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

GERMANY

Bayern
WÜRZBURG

Accreditation
Microdeletion screening by MLPA
Universität Würzburg - Biozentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

FRANCE

NORMANDIE
EVREUX

Accreditation
FISH analysis of microdeletion syndromes
LAM Saint-Pierre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of microdeletions/microduplications by array-CGH
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

FRANCE

CENTRE-VAL DE LOIRE
TOURS

Accreditation
FISH analyses of microdeletions / microduplications
CHRU de Tours - Hôpital Bretonneau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

FRANCE

BRETAGNE
BREST

Accreditation
Diagnosis of cryptic subtelomere rearrangements (FISH analysis)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

FRANCE

ILE-DE-FRANCE
POISSY

Accreditation
Diagnosis of microdeletion syndromes
Centre hospitalier intercommunal Poissy-Saint-Germain-en-Laye
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

FRANCE

ILE-DE-FRANCE
CLAMART

Accreditation
Diagnosis of microdeletion syndromes (by FISH)
AP-HP.Université Paris Saclay - Hôpital Antoine Béclère
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SWEDEN

Region Östergötland
LINKÖPING

Accreditation
Diagnosis of microdeletion syndromes (genome-wide SNP array)
Universitetssjukhuset i Linköping
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

UNITED KINGDOM

Nottinghamshire
NOTTINGHAM

Accreditation
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies through MLPA analysis (PMP22 gene deletion)
Nottingham University Hospitals NHS Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Thüringen
JENA

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Genetica AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of microdeletion and microduplication syndromes by array CGH
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Hereditary Neuropathy with liability to Pressure Palsies - HNPP (PMP22 gene: deletion analysis and MLPA, 17p11.2)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular and cytogenetic diagnosis of Chromosomal Anomalies (Karyotyping, SNP-Array and FISH)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular diagnosis of Hereditary Neuropathy with liability to Pressure Palsies - HNPP (PMP22 gene: Sequencing of the entire coding region of gene (s) and MLPA, 17p11.2)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : MLPA based techniques

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene: sequencing / MLPA)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

FRANCE

GRAND-EST
REIMS

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
CHU de Reims - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

GERMANY

Nordrhein-Westfalen
BOCHUM

Accreditation
Diagnosis of microdeletion and microduplication syndromes by array CGH
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

GERMANY

Nordrhein-Westfalen
BONN

Accreditation
Diagnosis of microdeletion and microduplication syndromes by array CGH
Universitätsklinikum Bonn (AöR)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

GERMANY

Hamburg
HAMBURG

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Molecular diagnosis of uniparental disomy of chromosome 14 (analysis by linked markers)
Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

SPAIN

Madrid
MADRID

Accreditation
Diagnosis of chromosomal anomalies
NIMGenetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

FRANCE

GRAND-EST
STRASBOURG

Accreditation
Diagnosis of microdeletions / microduplications by CGH arrays
CHU de Strasbourg - Nouvel Hôpital Civil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Molecular and Cytogenetic diagnosis of Chromosomal Anomalies (Karyotyping, SNP-Array and FISH)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : Array based techniques, FISH, Karyotyping

GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
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

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of microdeletion/ microduplication syndromes (by array)
APHP - HUPC - Site Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 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

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Neuropathy, Hereditary, With Liability To Pressure Palsies by sequencing of the entire coding region plus targetted copy number analysis (PMP22 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

GERMANY

Bayern
MARTINSRIED/PLANEGG

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene: sequencing / MLPA)
MVZ Martinsried GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Hereditary Motor and Sensory Neuropathy (HMSN) by NGS: HMSN gene panel (Please refer to additional information: Genes concerned)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Synlab Lausanne
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

CANADA

Manitoba
WINNIPEG

Accreditation
Molecular Diagnosis of Hereditary Neuropathy with Pressure Palsies (MLPA of PMP22)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Caryotype moléculaire
Centre de Génétique Humaine - UCL. Cliniques universitaires Saint-Luc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

BELGIUM

LIEGE
LIEGE

Accreditation
Molecular and cytogenetic diagnosis of chromosomal anomalies
CHU de Liège - UniLab Lg
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH, Karyotyping

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Molecular and Cytogenetic diagnosis of Chromosomal Anomalies
Erasme Hospital - ULB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

CANADA

Ontario
MISSISSAUGA

Accreditation
Molecular Cytogenetic Diagnosis of Microdeletion/Microduplication Syndrome
Trillium Health Partners- Credit Valley Site
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Cytogenetic lab for conventional and molecular cytogenetic chromosome analysis
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH, Karyotyping

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of microdeletion / microduplication syndromes
Hôpital Saint-Joseph
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Molecular and Cytogenetic diagnosis of Chromosomal Anomalies (Karyotyping, SNP-Array and FISH)
Centrum Medische Genetica - UZA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : Array based techniques, FISH, Karyotyping

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of neuropathies associated with mutations in the PMP22 gene
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
WÜRZBURG

Accreditation
Diagnosis of Charcot-Marie-Tooth disease (NGS screening panel, 27 genes)
Universität Würzburg - Biozentrum
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), MLPA based techniques

FRANCE

NOUVELLE AQUITAINE
LIMOGES

Accreditation
Diagnosis of Charcot-Marie-Tooth disease and differential Diagnosis neuropathies: dHMN and dHSN (Panel)
CHU de Limoges - Hôpital Dupuytren
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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of Charcot-Marie-Tooth disease (Panel)
CHU de Marseille - Hôpital de la Timone
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

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of peripheral neuropathies (Panel)
AP-HP.Université Paris Saclay - Hôpital de Bicêtre
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) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of Charcot-Marie-Tooth disease (Panel)
CHU de Lyon HCL - GH Est
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)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of axonal hereditary motor and sensory neuropathy (gene panel)
Reference Laboratory Genetics
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) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

NOUVELLE AQUITAINE
LIMOGES

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
CHU de Limoges - Hôpital Dupuytren
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Madrid
MADRID

Accreditation
Diagnosis of Charcot-Marie-Tooth and related hereditary neuropathies (panel)
NIMGenetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (deletion and point mutations of the PMP22 gene)
AP-HP.Université Paris Saclay - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Diagnosis of neurogenetic and neuromuscular diseases (NGS panel, 291 genes)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Molecular diagnosis of uniparental disomy (7, 14, 15)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
Diagnosis of Hereditary Neuropathy with liability to Pressure Palsies
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of Charcot-Marie-Tooth disease (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)

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of neuropathies (NGS screening panel, 269 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

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of chromosomal anomalies (Array CGH by DNA-SNP chips)
AP-HP.Sorbonne Université - Hôpital d'Enfants Armand-Trousseau
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Newborn screening
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH, Karyotyping

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Motor and Sensory Neuropathy (gene panel; NEM15v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Chromosomal Microarray Analysis (CMA)
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of chromosomal anomalies
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Accreditation
Diagnosis of microdeletion microduplication syndromes
CHU Grenoble Alpes
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of peripheral neuropathy (duplication and deletion of PMP22 gene)
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of genetic peripheral neuropathy (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)

SPAIN

Asturias
OVIEDO

Accreditation
Diagnosis of Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (panel)
Hospital Universitario Central 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), MLPA based techniques

GERMANY

Niedersachsen
GÖTTINGEN

Accreditation
Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Institut für Humangenetik der Universität Göttingen
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

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Accreditation
Diagnosis of uniparental disomy of chromosome 14
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Chromosomal instability
Technique(s) : Chromosome breakage analysis

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Diagnosis of rare neuropathies (gene panel)
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) : NGS sequencing (except WES)

FRANCE

NOUVELLE AQUITAINE
POITIERS

Accreditation
Diagnosis of developmental abnormalities (Whole exome)
CHU de Poitiers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

FRANCE

NORMANDIE
ROUEN

Accreditation
Diagnosis of developmental abnormalities and intellectual disability (Whole exome)
CHU de Rouen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of inherited peripheral neuropathies (gene panel)
UZ Leuven - Campus Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

ITALY

TRENTINO ALTO ADIGE
ROVERETO

Accreditation
Diagnosis of peripheral neuropathies and small fiber neuropathy [panel of genes]
MAGI'S LAB srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Accreditation
Diagnosis of uniparental disomies of chromosomes 7, 14 and 15
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

FRANCE

ILE-DE-FRANCE
CLAMART

Accreditation
Diagnosis of uniparental disomie of chromosome 11
AP-HP.Université Paris Saclay - Hôpital Antoine Béclère
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

FRANCE

ILE-DE-FRANCE
CLAMART

Accreditation
Diagnosis of uniparental disomie of chromosome 14
AP-HP.Université Paris Saclay - Hôpital Antoine Béclère
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

FRANCE

ILE-DE-FRANCE
CLAMART

Accreditation
Diagnosis of uniparental disomie of chromosome 15
AP-HP.Université Paris Saclay - Hôpital Antoine Béclère
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

FRANCE

GRAND-EST
REIMS

Accreditation
Diagnosis of developmental abnormalities (Whole exome)
CHU de Reims - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of developmental abnormalities without intellectual disability (Whole exome)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Preimplantation genetic testing for aneuploidies (PGT-A)
Universität Zürich
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : NGS sequencing (except WES)

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Diagnosis of Charcot-Marie-Tooth disease (panel)
Universität Zürich
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, Whole Exome Sequencing (WES)

NORWAY

Vestlandet
BERGEN

Accreditation
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Haukeland University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques

CANADA

Québec
MONT-ROYAL, MONTRÉAL

Accreditation
Diagnosis of microdeletion and microduplication syndromes by array analysis
PROCREA Cliniques
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene: sequencing of entire coding region and deletion 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, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

UNITED KINGDOM

Grampian
ABERDEEN

Accreditation
Diagnosis of Neuropathy, Hereditary, With Liability To Pressure Palsies (PMP22 gene)
Aberdeen Royal Infirmary, Polwarth Building
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

CANADA

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

Accreditation
Molecular Cytogenetic Diagnosis of Partial Chromosome Deletion/Duplication (subtelomeric FISH)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

CANADA

Ontario
HAMILTON

Accreditation
Molecular Cytogenetic Diagnosis of Chromosome Microduplications/Microdeletions (CGH Array)
McMaster University Medical Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : Array based techniques

CANADA

Ontario
TORONTO

Accreditation
Molecular Cytogenetic Diagnosis of Chromosome Microduplications/Microdeletions (CGH Array)
The Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : Array based techniques

CANADA

Ontario
OTTAWA

Accreditation
Molecular Cytogenetic Diagnosis of Chromosome Microduplications/Microdeletions (CGH Array)
Children's Hospital of Eastern Ontario
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : Array based techniques

CANADA

Ontario
TORONTO

Accreditation
Molecular Cytogenetic Diagnosis of Chromosome Microduplications/Microdeletions (SNP Array)
North York General Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

ITALY

TOSCANA
PISA

Diagnosis of Charcot-Marie-Tooth disease [panel of genes]
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Methylation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

ITALY

FRIULI VENEZIA GIULIA
UDINE

Molecular diagnosis of neuropathy hereditary with liability to pressure palsies (PMP22 gene)
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Bayern
ERLANGEN

Diagnosis of hereditary neuropathy with liability to pressure palsies
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

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of neuropathy with liability to pressure palsies (PMP-22 gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LIGURIA
GENOVA

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP-22 gene)
IRCCS Ospedale Policlinico San Martino - IST - DIMI
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) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of neuropathy hereditary with liability to pressure palsies (PMP-22 gene)
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
Technique(s) : MLPA based techniques

AUSTRIA

WIEN
WIEN

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

AUSTRIA

WIEN
WIEN

Diagnosis of Charcot-Marie-Tooth disease (DNM2, GDAP1, GJB1, LMNA, MFN2, and PMP22 genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

DENMARK

Hovedstaden
COPENHAGEN

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Rigshospitalet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Aragón
ZARAGOZA

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Hospital Universitario Miguel Servet
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Bayern
BAD STEBEN

Diagnosis of hereditary neuropathy with liability to pressure palsies (deletion 17p11.2)
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

DENMARK

Jylland
AARHUS

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies
Klinisk Genetisk Afdeling - Aarhus Universitetshospital - Skejby
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

SPAIN

Cataluña
BARCELONA

Diagnosis of chromosomal anomalies (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

GREECE

ATTIKI
MAROUSI

Clinical laboratory for cytogenetic testing
Private clinic for subfertility studies
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

SWEDEN

Region Uppsala
UPPSALA

Diagnosis of neuropathy hereditary with liability to pressure palsies (PMP22 gene)
Uppsala University Hospital - Akademiska Sjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques

TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Acibadem healthcare group
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular genetic diagnosis of cryptic rearrangements by array-CGH
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

ITALY

LAZIO
ROMA

Molecular genetic diagnosis of criptic rearrangements by array-CGH
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

DENMARK

Syddanmark
VEJLE

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (17p11.2 microdeletion detected by MLPA)
Sygehus Lillebaelt Vejle Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

PIEMONTE
TORINO

Molecular genetic diagnosis of genomic microdeletions-duplications by CGH-array
A.O.U. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : Array based techniques

SPAIN

Andalucía
MÁLAGA

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
IMEGEN - Delegación Málaga
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Andalucía
SEVILLA

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene / 1.5 Mb deletion in the 17p11.2 region)
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, Deletion / Duplication analysis
Technique(s) : PCR based techniques, MLPA based techniques

SPAIN

Madrid
MADRID

Diagnosis of hereditary neuropathy with liability to pressure palsies
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of hereditary neuropathy with liability to pressure palsies
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of hereditary neuropathy with liability to pressure palsies
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Hamburg
HAMBURG

Diagnosis of hereditary neuropathy with liability to pressure palsies
Gemeinschaftspraxis für Humangenetik GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
COSTOZZA DI LONGARE

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (gene PMP-22)
B.I.R.D. Foundation
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
NEUILLY-SUR-SEINE

Diagnosis of microdeletion syndromes
Laboratoire Eylau Unilabs - Neuilly
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies
Genetiks - Genetic diagnosis and research center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Poznan
POZNAN

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene deletion)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

FRANCE

PAYS DE LA LOIRE
NANTES

Array-CGH analyses of microdeletions and microduplications
CHU de Nantes - Institut de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

FRANCE

BRETAGNE
RENNES

Diagnosis of microdeletions and microduplications (Array-CGH)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene / deletion 17p11.2)
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

SPAIN

Cataluña
BARCELONA

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Hospital Clínic de Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

ITALY

TOSCANA
PISA

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Detection of microdeletions/microduplications
Technique(s) : Sanger sequencing, FISH

GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 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

ITALY

TOSCANA
SIENA

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Azienda Ospedaliera Universitaria Senese - Policlinico Santa Maria alle Scotte
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), PCR based techniques

GERMANY

Sachsen
DRESDEN

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene: sequencing / MLPA)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Madrid
MADRID

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Hospital Clínico San Carlos
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Berlin
BERLIN

Diagnosis of microdeletion and microduplication syndromes by array CGH
Labor Medicover Humangenetik Berlin Lichtenberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

GERMANY

Schleswig-Holstein
KIEL

Diagnosis of microdeletion and microduplication syndromes by array CGH
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

SPAIN

Castilla - León
SALAMANCA

Diagnosis of chromosomal abnormalities
Centro de Investigación del Cáncer (USAL-CSIC)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Array based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Policlínica Gipuzkoa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

SPAIN

La Rioja
LOGROÑO

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
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

DENMARK

Sjælland
GLOSTRUP

Molecular cytogenetic diagnosis of submicroscopic chromosome aberrations (FISH)
Kennedy Center
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Cytogenetics
Technique(s) : FISH

DENMARK

Sjælland
GLOSTRUP

Molecular and cytogenetic diagnosis of subtelomeric chromosome imbalances (MLPA and FISH)
Kennedy Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Technique(s) : MLPA based techniques, FISH

SPAIN

Cataluña
TERRASSA

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of uniparental disomy of chromosome 14 (methylation of 14q32 region; MEG3 and DLK1 genes)
AP-HP.Sorbonne Université - Hôpital d'Enfants Armand-Trousseau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

SPAIN

La Rioja
LOGROÑO

Diagnosis of Charcot-Marie-Tooth disease (gene panel)
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
Technique(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

FRANCE

PAYS DE LA LOIRE
NANTES

Diagnosis of Robertsonian and reciprocal translocations
CHU de Nantes - Institut de Biologie
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

FRANCE

NORMANDIE
CAEN

Diagnosis of microdeletions and microduplications (array-CGH)
CHU de Caen - Hôpital Clémenceau
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

SPAIN

Comunidad Valenciana
ALICANTE

Diagnosis of chromosomal anomalies (Detection of chromosome alterations large in size, array based techniques)
Hospital Clínica Vistahermosa
Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Other

ITALY

LAZIO
ROMA

Diagnosis of partial deletion of chromosome 17
Istituto CSS-Mendel
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques, FISH

ITALY

LAZIO
ROMA

Molecular cytogenetic diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP gene)
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

FRANCE

OUTRE-MER
SAINT-DENIS

FISH analysis of microdeletions / microduplications
CHU de la Réunion - Hôpital Félix Guyon
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

CANADA

Colombie-Britannique
VANCOUVER

Molecular Diagnosis of Charcot-Marie-Tooth type 1A (MLPA of PMP22)
BC Women's Hospital and Health Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

CANADA

Colombie-Britannique
VANCOUVER

Molecular Diagnosis of Hereditary Neuropathy with Liability to Pressure Palsies HNPP (PMP22 MLPA)
BC Women's Hospital and Health Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Maternal or Paternal Uniparental Disomy 14
University of Alberta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Molecular and Cytogenetic diagnosis of Chromosomal Anomalies
Universitair Ziekenhuis Brussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis, Detection of chromosome alterations large in size, Detection of microdeletions/microduplications, Chromosomal instability, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques, Array based techniques, FISH, Karyotyping, Whole Exome Sequencing (WES), Chromosome breakage analysis

ITALY

MOLISE
POZZILLI

Diagnosis of rare peripheral neuropathies [panel of genes]
Istituto Neurologico Mediterraneo - IRCCS Neuromed
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

ITALY

VENETO
LIMENA

Molecular diagnosis of microdeletion/microduplication syndromes (determined by array-CGH)
RDI - RETE DIAGNOSTICA ITALIANA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Schleswig-Holstein
KIEL

Cytogenetic lab for prenatal and postnatal chromosome analysis
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

ITALY

VENETO
PADOVA

Diagnosis of Charcot-Marie-Tooth disease [panel of 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)

POLAND

Gdansk
GDANSK

PGS-NGS 360°?. Preimplantation Genetic Screening
INVICTA Sp. z o.o.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

ITALY

LOMBARDIA
VARESE

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
A.O.U. Ospedale di Circolo e Fondazione Macchi - Università dell'Insubria
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)

GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
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

AUSTRIA

WIEN
WIEN

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

VENETO
PADOVA

Molecular diagnosis of genetic peripheral neuropathies [panel of genes]
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) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

SPAIN

Madrid
MADRID

Diagnosis of neuropathies (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)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

La Rioja
LOGROÑO

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
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), MLPA based techniques

SPAIN

La Rioja
LOGROÑO

Diagnosis of Charcot-Marie-Tooth disease (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)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of idiopathic intellectual disability, autism, growth delay, and / or multiple congenital anomalies (qChip« Post)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of ataxia (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, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of muscular diseases (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, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Charcot-Marie-Tooth disease (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)

ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of chromosomal anomalies
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications, Chromosomal instability
Technique(s) : NGS sequencing (except WES), M-FISH/SKY, MLPA based techniques, Array based techniques, FISH, Karyotyping, Chromosome breakage analysis

SPAIN

Galicia
A CORUÑA

Diagnosis of Charcot-Marie-Tooth disease (panel - 63 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)

SPAIN

Galicia
A CORUÑA

Diagnosis of demyelinating or intermediate Charcot-Marie-Tooth disease (panel - 30 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)

SPAIN

Galicia
A CORUÑA

Diagnosis of Charcot-Marie-Tooth disease with deafness (panel - 21 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)

SPAIN

Galicia
A CORUÑA

Diagnosis of genetic peripheral neuropathy (panel - 107 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)

GERMANY

Hessen
FRANKFURT AM MAIN

Diagnosis of Charcot-Marie-Tooth neuropathies (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

SPAIN

Baleares
PALMA DE MALLORCA

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Hospital Universitari Son Espases
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Hospital Clínico Universitario de Santiago
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Madrid
MADRID

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : MLPA based techniques

ITALY

EMILIA ROMAGNA
FERRARA

Diagnosis of neuromuscular diseases [panel of genes]
A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
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)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy (panel)
DNA Data
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)

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Sistemas Genómicos S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of Charcot-Marie-Tooth disease (panel)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of neuropathy hereditary with liability to pressure palsies (PMP-22 gene)
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

PUGLIA
CARBONARA DI BARI

Molecular genetic diagnosis of cryptic intrachromosomal and subtelomeric rearrangement by array-CGH
Ospedale di Venere - ASL Bari
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of neuropathy hereditary with liability to pressure palsies (PMP22 gene determined by MLPA)
Università degli Studi di Padova- Polo A.Vallisneri
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

AUSTRIA

WIEN
WIEN

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

CYPRUS

Cyprus
NICOSIA

Molecular diagnosis of neuropathy hereditary with liability to pressure palsies (PMP22 gene)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CYPRUS

Cyprus
NICOSIA

Molecular diagnosis of Charcot-Marie-Tooth disease (PMP22, MPZ and GJB1 genes)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene: Deletion/duplication analysis)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

GREECE

ATTIKI
ATHENS

Molecular diagnosis of neuropathy hereditary with liability to pressure palsies (PMP22 gene)
University of Athens - Medical school
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NORWAY

Østlandet
OSLO

Molecular diagnosis of neuropathy hereditary with liability to pressure palsies (PMP22 gene)
Oslo University Hospital, Ullevaal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVENIA

SLOVENIA
MARIBOR

Cytogenetic analyses of chromosomal anomalies
Maribor general hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

ITALY

CALABRIA
MANGONE

Molecular diagnosis of neuropathy hereditary with liability to pressure palsies (PMP22 gene)
CNR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

TURKEY

TURKEY
ESKISEHIR

Molecular diagnosis of Microdeletion syndromes by MLPA and FISH analysis
Eskisehir Osmangazi University Medical Faculty
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques, FISH

SLOVENIA

SLOVENIA
POSTOJNA

Diagnosis of chromosome aneuploidy
Zavod za prenatalno in posnatalno diagnostiko
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Hereditary Neuropathy with liability to Pressure Palsy, HNPP (PMP22, deletion)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

ISRAEL

ISRAEL
HAIFA

Cytogenetic diagnosis of Aneuploidy (specific subtelomeres probes, FISH analysis)
The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

ISRAEL

ISRAEL
JERUSALEM

Cytogenetic diagnosis of Aneuploidy (specific subtelomeres probes, FISH analysis)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

ISRAEL

ISRAEL
BEER YAAKOV

Cytogenetic diagnosis of Aneuploidy (specific chromosomes probes, FISH analysis)
Assaf Harofeh Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

SERBIA

Serbia
BELGRADE

Prenatal and postnatal molecular cytogenetic diagnosis of chromosomal anomalies (by FISH)
Mother and Child Health Institute of Serbia "Dr Vukan Cupic"
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

GERMANY

Sachsen-Anhalt
MAGDEBURG

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Universitätsklinikum Magdeburg A.ö.R
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

POLAND

Warszawa
WARSAW

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Mossakowski Medical Research Centre - Polish Academy of Sciances
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
University Hospital Motol
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ROMANIA

BUCURESTI
BUCURESTI

Prenatal and postnatal molecular diagnosis of subtelomere rearrangments (subtelomeric screening for deletions/duplications by MLPA)
National institute of legal medicine
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

PORTUGAL

SUL
LISBOA

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

SICILIA
TROINA

Molecular diagnosis of hereditary neuropathy with liabikity to pressure palsies (PMP22 gene)
IRCCS OASI Maria Santissima
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

UMBRIA
PERUGIA

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Azienda Ospedaliera di Perugia - Centro di Ricerca Emato-Oncologica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

CENTRO
COIMBRA

Molecular diagnosis of mental retardation and autism by array-CGH
Faculdade de Medicina da Universidade de Coimbra
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

GERMANY

Nordrhein-Westfalen
BONN

Diagnosis of microdeletion and microduplication syndromes by array CGH
MVZ Institut für Klinische Genetik und Tumorgenetik Bonn GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene deletions by MLPA)
University Hospital Bratislava - Stare mesto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of Y chromosome deletions (AZFa, AZFb, AZFc regions)
University Hospital Bratislava - Stare mesto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

CANADA

Alberta
CALGARY

Molecular Diagnosis of Hereditary Neuropathy with Liability to Pressure Palsies (PMP22)
Alberta Children's Hospital
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

CANADA

Alberta
CALGARY

Molecular Cytogenetic Diagnosis of Chromosome Microduplications/Microdeletions (CGH Array)
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : Array based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Centro de Investigación Príncipe Felipe (CIPF)
Purpose(s) : Post-natal diagnosis, Somatic genetics
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

SPAIN

Andalucía
SEVILLA

Diagnosis of hereditary neuropathy with liability to pressure palsies (PMP22 gene)
Hospital Universitario Virgen Macarena
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : MLPA based techniques

SPAIN

Cataluña
BADALONA

Diagnosis of Charcot-Marie-Tooth disease (GJB1, MPZ, MFN2, PMP22, TEKT3 genes)
Instituto de Investigación Germans Trias i Pujol
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

PORTUGAL

NORTE
PORTO

Diagnosis of uniparental disomy of chromosome 14
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis
Technique(s) : MLPA based techniques

PORTUGAL

NORTE
PORTO

Diagnosis of uniparental disomy of chromosome 7
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Uniparental disomy study, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques, Microsatellite analysis