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

Rheinland-Pfalz
INGELHEIM AM RHEIN
Diagnosis of Waardenburg syndrome (EDNRB, EDN3, MITF, PAX3, SOX10 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

Suisse Romande
LAUSANNE
Search of genomic DNA duplications and/or deletions by array-CGH
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: Array based techniques

Suisse Romande
GENÈVE
Search of duplications and/or deletions by array-CGH
Hôpitaux Universitaires de Genève HUG
Purpose(s)
: Antenatal diagnosis, 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

Suisse Romande
GENÈVE
Diagnosis of Waardenburg syndrome, types 1 and 3 (PAX3 gene)
Hôpitaux Universitaires de Genève HUG
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

Sachsen
DRESDEN
Diagnosis of Waardenburg syndrome (EDNRB, EDN3, MITF, PAX3, SOX10 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), Sanger sequencing

Suisse Alémanique
SCHLIEREN
Search of genomic DNA duplications and/or deletions by CGH arrays / chromosomal microarrays
Universität Zürich
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: Array based techniques

Gelderland
NIJMEGEN
Molecular diagnosis of Waardenburg Syndrome type 1, 2A, 2D, 2E and 3 (PAX3, MITF, SNAI2 and SOX10 gene)
Radboudumc - Radboud universitair medisch centrum
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 Waardenburg syndrome types 1 and 3 (PAX3 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)
: NGS sequencing (except WES)

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

BRETAGNE
BREST
Diagnosis of dysmorphological syndromes by CGH array
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: Array based techniques

Gelderland
NIJMEGEN
Molecular diagnosis in case of Multiple Congenital Anomalies (SNP-array)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: Array based techniques

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)

Hamburg
HAMBURG
Diagnosis of Waardenburg syndrome (SOX10 gene)
MVZ Fenner & Krasemann
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 Waardenburg syndrome (MITF, SOX10 genes)
CeGaT GmbH
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 digenic Waardenburg syndrome/ocular albinism (TYR and MITF 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

Baden-Württemberg
FREIBURG
Diagnosis of Waardenburg syndrome (EDNRB, MITF, PAX3, SOX10 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

Ontario
TORONTO
Molecular Diagnosis of Syndromic Hearing Loss - Waardenburg, Treacher Collins, Alport, Norrie Syndrome NGS Panel (10 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

Tartu
TARTU
Molecular diagnosis of albinism (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)

Tartu
TARTU
Molecular diagnosis of Waardenburg syndrome (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)

ILE-DE-FRANCE
PARIS
Diagnosis of Waardenburg syndrome (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)

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)

Bayern
MÜNCHEN
Diagnosis of Waardenburg syndrome (EDNRB, EDN3, MITF, PAX3, SNAI2, SOX10 genes)
Pränatal-Medizin München MVZ GmbH
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

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of Waardenburg syndrome (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

HAUTS-DE-FRANCE
LILLE
Diagnosis of Waardenburg syndrome (Panel)
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

Baden-Württemberg
TÜBINGEN
Diagnosis of syndromic hearing loss (NGS screening panel, 62 genes)
CeGaT GmbH
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 mental retardation and dysmorphology (NGS screening panel, 353 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 cytogenetic diagnosis of learning disability, developmental delay, congenital anomalies and dysmorphism syndromes, autism or mild intellectual disability (by conventional karyotype, array or FISH analysis)
St Mary's Hospital
Purpose(s)
: Antenatal diagnosis, 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

Gelderland
NIJMEGEN
Molecular diagnosis of Vision 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)

Baden-Württemberg
TÜBINGEN
Diagnosis of eye diseases (NGS screening panel: 384 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)

Baden-Württemberg
TÜBINGEN
Diagnosis of skin diseases (NGS screening panel, 253 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)

Niedersachsen
HANNOVER
Diagnosis of Waardenburg syndrome (EDNRB, EDN3, MITF, PAX3, SNAI2, SOX10 genes)
Medizinische Hochschule Hannover
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

ANTWERPEN
ANTWERPEN-EDEGEM
Diagnostic of 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 Waardenbrug syndrome (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)

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)

NOUVELLE AQUITAINE
POITIERS
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)

NORMANDIE
ROUEN
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)

OOST-VLAANDEREN
GENT
Diagnosis of oculocutaneous albinism and ocular albinism (gene panel, second-line testing)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
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 rare genetic skin diseases (gene panel)
Erasme Hospital - ULB
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

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)

TRENTINO ALTO ADIGE
ROVERETO
Diagnosis of infantile nystagmus [panel of genes]
MAGI'S LAB srl
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

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of multiple congenital anomalies/dysmorphic syndrome (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)

TRENTINO ALTO ADIGE
ROVERETO
Diagnosis of genodermatosis characterized by pigmentation disorders [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

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
Diagnosis of rare genetic developmental defect during embryogenesis (Whole exome)
Centre de Biologie
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing, Whole Exome Sequencing (WES)

OCCITANIE
TOULOUSE
Diagnosis of genetic ocular development pathologies (panel)
CHU de Toulouse - Hôpital Purpan
Purpose(s)
: Antenatal diagnosis, 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, Array based techniques

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

ILE-DE-FRANCE
PARIS
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)

ILE-DE-FRANCE
LE CHESNAY
Diagnosis of neurodevelopmental disorders and malformation syndromes (Whole exome)
CH de Versailles - Hôpital André Mignot
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

LAZIO
ROMA
Molecular diagnosis of Waardenburg syndrome, type 2 (MITF gene)
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Bayern
BAD STEBEN
Diagnosis of Waardenburg syndrome (PAX3 gene)
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

VENETO
COSTOZZA DI LONGARE
Diagnosis of Waardenburg syndrome (PAX3 gene)
B.I.R.D. Foundation
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

VENETO
PADOVA
Diagnosis of Waardenburg syndrome type 1,2 and 3 (PAX3 and MITF genes)
Azienda Ospedaliera di Padova
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: PCR based techniques

Schleswig-Holstein
KIEL
Diagnosis of Waardenburg syndrome (MITF gene)
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

Madrid
MADRID
Diagnosis of Waardenburg syndrome type 1 (PAX3 gene)
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), MLPA based techniques

Madrid
MADRID
Diagnosis of Waardenburg syndrome type 3 (PAX3 gene)
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), MLPA based techniques

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of Waardenburg syndrome (PAX3, MITF, SNAI2, SOX10 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, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Mecklenburg-Vorpommern
ROSTOCK
Diagnosis of albinism (NGS screening panel: 28 genes)
Centogene AG
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, MLPA based techniques

Comunidad Valenciana
PATERNA
Diagnosis of Waardenburg syndrome (panel)
IMEGEN - Delegación Valencia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: MLPA based techniques, Whole Exome Sequencing (WES)

Sachsen
DRESDEN
Diagnosis of ocular albinism (GPR143 and MITF genes: 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

Sachsen
DRESDEN
Diagnosis of Waardenburg syndrome (EDNRB, MITF, PAX3, SNAI2, SOX10 genes: sequencing / MLPA; EDN3 gene: sequencing)
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

WIEN
WIEN
Diagnosis of oculocutaneous and ocular albinism (TYR, OCA2, and GPR143 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

WIEN
WIEN
Molecular diagnosis of oculocutaneous albinism (SLC45A2, TYR, TYRP1, and OCA2 genes)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

País Vasco
SAN SEBASTIÁN
Diagnosis of Waardenburg syndrome type 1 (PAX3 gene)
Policlínica Gipuzkoa
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: Array based techniques

Mecklenburg-Vorpommern
ROSTOCK
Diagnosis of Waardenburg syndrome (MITF, SOX10 genes)
Centogene AG
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)

Comunidad Valenciana
PATERNA
Diagnosis of Waardenburg syndrome type 3 (PAX3 gene)
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)

Comunidad Valenciana
ELCHE
Diagnosis of Waardenburg syndrome type 2 (MITF gene)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

País Vasco
SAN SEBASTIÁN
Diagnosis of Waardenburg syndrome type II (MITF, SNAI2, SOX10 genes)
DNA Data
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

WIEN
WIEN
Molecular diagnosis of Waardenburg syndrome (PAX3 gene)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

VENETO
PADOVA
Molecular diagnosis of oculocutaneous albinism [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)

Madrid
MADRID
Diagnosis of syndromic genetic 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)

Comunidad Valenciana
ELCHE
Diagnosis of Waardenburg syndrome (PAX3 gene)
Bioarray
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

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

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

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)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of bone dysplasia (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)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of intellectual disability (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)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of Waardenburg syndrome (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)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of inherited cancer-predisposing syndrome (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)

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of oculocutaneous albinism (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)

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 Waardenburg syndrome (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
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, MLPA based techniques

Hessen
FRANKFURT AM MAIN
Diagnosis of oculocutaneous or ocular albinism (NGS panel, 28 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 Waardenburg syndrome (EDNRB, EDN3, KITLG, MITF, PAX3, SNAI2, SOX10 genes)
Senckenberg Zentrum für Humangenetik
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

AUVERGNE-RHONE-ALPES
LYON
Diagnosis of developmental abnormalities without intellectual disability (Whole genome sequencing)
GCS AURAGEN
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)

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)

PUGLIA
SAN GIOVANNI ROTONDO
Diagnosis of Waardenburg syndrome type 1 (PAX3 gene), type 2 (MITF gene) and type 2E (SOX10 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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), MLPA based techniques

TURKEY
ESKISEHIR
Molecular diagnosis of Waardenburg syndrome by MLPA
Eskisehir Osmangazi University Medical Faculty
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Technique(s)
: MLPA based techniques

TURKEY
ISTANBUL
Molecular diagnosis of waardenburg syndrome (whole sequence of PAX3 gene)
Koc University, Faculty of Medicine
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

ISRAEL
JERUSALEM
Molecular diagnosis of Waardenburg syndrome (PAX3, Linkage analysis, PGD)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
JERUSALEM
Molecular diagnosis of Waardenburg (PAX3, Linkage analysis, PGD)
Shaare Zedek Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

NORTE
PORTO
Diagnosis of Waardenburg syndrome type 1 and 3 (PAX3 gene).
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: MLPA based techniques

WIEN
WIEN
Molecular diagnosis of Waardenburg syndrome (EDN3, EDNRB, MITF, SNAI2, SOX10, and PAX3 genes)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

WIEN
WIEN
Molecular diagnosis of oculocutaneous and ocular albinism (GPR143, LRMDA, TYR, TYRP1, SLC24A5, SLC45A2, and OCA2 genes)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

GRAND-EST
VANDOEUVRE-LÈS-NANCY
Diagnosis of neural tube closure defect (Panel)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

Dél-Alföld
SZEGED
Waardenburg syndrome
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

Fyn
ODENSE
Diagnosis of albinism (Panel)
Amplexa Genetics A/S
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, Whole Exome Sequencing (WES)

NORTE
PORTO