Search for a diagnostic test
97 Result(s)
Laboratory officially designated for this diagnostic test
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;

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
Service(s)
: Targeted gene test, Sequence analysis: entire coding region 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
Service(s)
: Array test, Deletion/duplication test

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, Chromosomal genetics (including cytogenetics)
Service(s)
: Array test, Deletion/duplication test

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
Service(s)
: Targeted gene test, Sequence analysis: entire coding region 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
Service(s)
: Array test, Deletion/duplication test

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
Service(s)
: Targeted gene test, Sequence analysis: entire coding region, Deletion / Duplication analysis sanger sequencing, mlpa based techniques

Bayern
MÜNCHEN
Diagnosis of rare genetic deafness (NGS screening panel: 138 genes)
Medizinisch Genetisches Zentrum München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Deletion / Duplication analysis ngs sequencing (except wes)

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
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

Gelderland
NIJMEGEN
Diagnosis in case of Multiple Congenital Anomalies (SNP-based array or NGS sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics, Chromosomal genetics (including cytogenetics)
Service(s)
: Array test, Deletion/duplication test, Deletion / Duplication analysis ngs sequencing (except wes)

Gelderland
NIJMEGEN
Molecular diagnosis of Hearing Impairment (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

Hamburg
HAMBURG
Diagnosis of Waardenburg syndrome (SOX10 gene)
Labor Dr. Fenner & Kollegen MVZ GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region sanger sequencing

Baden-Württemberg
TÜBINGEN
Diagnosis of Waardenburg syndrome (MITF, SOX10 genes)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Array test, Deletion/duplication test, Sequence analysis: entire coding region ngs sequencing (except wes)

Tartu
TARTU
Molecular diagnosis of albinism (panel)
Asper Biogene
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

Tartu
TARTU
Molecular diagnosis of Waardenburg syndrome (panel)
Asper Biogene
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

NOUVELLE AQUITAINE
LIMOGES
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
Service(s)
: Targeted gene test, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), mlpa based techniques

ILE-DE-FRANCE
PARIS
Diagnosis of Waardenburg syndrome (Panel)
Hôpital Necker-Enfants Malades
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Gene panel test

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
Service(s)
: Gene panel test

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
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa 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
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis 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)
: Chromosomal genetics (including cytogenetics)

Gelderland
NIJMEGEN
Molecular diagnosis of Vision Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

Baden-Württemberg
TÜBINGEN
Diagnosis of eye diseases (NGS screening panel: 444 genes)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Gene panel test, Sequence analysis: entire coding region 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
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Gene panel test, Targeted gene test, Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of rare genetic skin diseases (gene panel)
Hôpital Universitaire de Bruxelles (H.U.B) - Site Hôpital Erasme
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Targeted gene test, Deletion / Duplication analysis mlpa based techniques

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of multiple congenital anomalies/dysmorphic syndromes (gene panel)
Universitair Ziekenhuis Brussel
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Targeted gene test

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
Service(s)
: Targeted gene test, Sequence analysis: entire coding region 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
Service(s)
: Array test, Deletion/duplication test, Targeted gene test, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing

GRAND-EST
REIMS
Diagnosis of developmental abnormalities (Whole exome)
CHU de Reims - Hôpital Robert Debré
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

BOURGOGNE-FRANCHE-COMTE
BESANÇON
Diagnosis of mosaic skin abnormalities (Panel)
CHU de Besançon - Hôpital Jean Minjoz
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Targeted gene test

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
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

NOUVELLE AQUITAINE
BORDEAUX
Diagnosis of pigmentation anomalies of the skin (Panel)
CHU de Bordeaux-GH Pellegrin
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Gene panel test, Targeted gene test, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

AUVERGNE-RHONE-ALPES
LYON
Diagnosis of developmental defects during embryogenesis (Whole exome)
Eurofins Biomnis
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

AUVERGNE-RHONE-ALPES
LYON
Diagnosis of genetic deafness (Whole exome)
Eurofins Biomnis
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (wes)

Bayern
MÜNCHEN
Diagnostics of rare deafness (NGS screening panel: 169 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

GRAND-EST
METZ
Diagnosis of multiple congenital anomalies without intellectual disability
CHR de Metz-Thionville
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Array test, Deletion/duplication test, Methylation analysis array based techniques

Suisse Alémanique
BASEL
Diagnosis of developmental disorders by Twist Comprehensive Exome Panel
Universitätsspital Basel
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes), 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

VENETO
COSTOZZA DI LONGARE
Diagnosis of Waardenburg syndrome (PAX3 gene)
B.I.R.D. Foundation
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Targeted gene test, Sequence analysis: entire coding region 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
Service(s)
: Deletion / Duplication analysis pcr based techniques

Madrid
MADRID
Diagnosis of Waardenburg syndrome type 1 (PAX3 gene)
Hospital Universitario Ramón y Cajal
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), mlpa based techniques

Mecklenburg-Vorpommern
ROSTOCK
Diagnosis of albinism (NGS screening panel: 28 genes)
CENTOGENE GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), pcr based techniques, mlpa based techniques

Comunidad Valenciana
VALENCIA
Diagnosis of Waardenburg syndrome (panel)
Health in Code. Valencia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Targeted gene test, Sequence analysis: entire coding region 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
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Sequence analysis: entire coding region sanger sequencing

Mecklenburg-Vorpommern
ROSTOCK
Diagnosis of Waardenburg syndrome (MITF, SOX10 genes)
CENTOGENE GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

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
Service(s)
: Sequence analysis: entire coding region whole exome sequencing (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
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Gene panel test, Targeted gene test, Sequence analysis: entire coding region 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
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

Comunidad Valenciana
ELCHE
Diagnosis of Waardenburg syndrome (PAX3 gene)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Specialty(ies)
: Molecular genetics
Service(s)
: Gene panel test, Targeted gene test, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

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
Service(s)
: Array test, Deletion/duplication test

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of ataxia (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Gene panel test, Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Specialty(ies)
: Molecular genetics
Service(s)
: Gene panel test, Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Specialty(ies)
: Molecular genetics
Service(s)
: Gene panel test, Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Specialty(ies)
: Molecular genetics
Service(s)
: Gene panel test, Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Specialty(ies)
: Molecular genetics
Service(s)
: Gene panel test, Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Specialty(ies)
: Molecular genetics
Service(s)
: Gene panel test, Deletion / Duplication analysis 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
Specialty(ies)
: Molecular genetics
Service(s)
: Gene panel test, Deletion / Duplication analysis 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
Specialty(ies)
: Molecular genetics
Service(s)
: Targeted gene test, Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Service(s)
: Gene panel test, Targeted gene test, Sequence analysis: entire coding region, Deletion / Duplication analysis 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
Service(s)
: Sequence analysis: entire coding region ngs sequencing (except wes)

Extremadura
BADAJOZ
Diagnosis of rare genetic developmental defect during embryogenesis
Hospital Universitario de Badajoz
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Array test, Deletion/duplication test, Sequence analysis: entire coding region ngs sequencing (except wes), whole exome sequencing (wes)

Bayern
ERLANGEN
Diagnosis of unspecific developmental delay (NGS screening panel: 1666 genes)
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), mlpa based techniques

Nordrhein-Westfalen
BONN
Diagnosis of Waardenburg syndrome (EDNRB, EDN3, MITF, PAX3, SNAI2, SOX10, TYR genes)
MVZ Institut für Klinische Genetik und Tumorgenetik Bonn GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region sanger sequencing

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
Service(s)
: Deletion / Duplication analysis 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
Service(s)
: Sequence analysis: entire coding region 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
Service(s)
: Sequence analysis: entire coding region sanger sequencing

Dél-Alföld
SZEGED
Waardenburg syndrome
University of Szeged Deparment of Medical Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Sequence analysis: entire coding region sanger sequencing

Fyn
ODENSE
Diagnosis of albinism (Panel)
Amplexa Genetics A/S
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Service(s)
: Gene panel test, Targeted gene test, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), whole exome sequencing (wes)

NORTE
PORTO