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    GERMANY

    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

    More information

    Accreditation
    SWITZERLAND

    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

    More information

    Accreditation
    SWITZERLAND

    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

    More information

    Accreditation
    SWITZERLAND

    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

    More information

    Accreditation
    SWITZERLAND

    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

    More information

    Accreditation
    NETHERLANDS

    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

    More information

    Accreditation
    GERMANY

    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)

    More information

    Accreditation
    BELGIUM

    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)

    More information

    Accreditation
    GERMANY

    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

    More information

    Accreditation
    NETHERLANDS

    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)

    More information

    Accreditation
    NETHERLANDS

    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)

    More information

    Accreditation
    GERMANY

    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

    More information

    Accreditation
    GERMANY

    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

    More information

    Accreditation
    GERMANY

    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

    More information

    Accreditation
    GERMANY

    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

    More information

    Accreditation
    CANADA

    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)

    More information

    Accreditation
    ESTONIA

    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)

    More information

    Accreditation
    ESTONIA

    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)

    More information

    Accreditation
    FRANCE

    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

    More information

    Accreditation
    FRANCE

    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

    More information

    Accreditation
    FRANCE

    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

    More information

    Accreditation
    GERMANY

    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

    More information

    Accreditation
    SPAIN

    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

    More information

    Accreditation
    GERMANY

    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)

    More information

    Accreditation
    GERMANY

    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)

    More information

    Accreditation
    UNITED KINGDOM

    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)

    More information

    Laboratory officially designated for this diagnostic test      Accreditation
    NETHERLANDS

    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)

    More information

    Accreditation
    GERMANY

    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)

    More information

    Accreditation
    GERMANY

    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)

    More information

    Accreditation
    GERMANY

    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

    More information

    Accreditation
    BELGIUM

    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)

    More information

    Accreditation
    BELGIUM

    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)

    More information

    Accreditation
    FRANCE

    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)

    More information

    Accreditation
    FRANCE

    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)

    More information

    Accreditation
    BELGIUM

    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)

    More information

    Accreditation
    BELGIUM

    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)

    More information

    Accreditation
    GERMANY

    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)

    More information

    Accreditation
    ITALY

    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

    More information

    Accreditation
    BELGIUM

    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)

    More information

    Accreditation
    ITALY

    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

    More information

    Accreditation
    FRANCE

    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)

    More information

    Accreditation
    FRANCE

    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

    More information

    Accreditation
    FRANCE

    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)

    More information

    Accreditation
    FRANCE

    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)

    More information

    Accreditation
    FRANCE

    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

    More information

    Accreditation
    FRANCE

    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)

    More information

    Accreditation
    FRANCE

    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)

    More information

    Accreditation
    FRANCE

    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)

    More information

    Accreditation
    FRANCE

    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)

    More information

    Accreditation
    GERMANY

    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)

    More information

    Accreditation
    FRANCE

    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

    More information

    Accreditation
    SWITZERLAND

    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)

    More information

    Accreditation
    ITALY

    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

    More information

    ITALY

    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

    More information

    ITALY

    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

    More information

    SPAIN

    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

    More information

    SPAIN

    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

    More information

    GERMANY

    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

    More information

    SPAIN

    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)

    More information

    GERMANY

    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

    More information

    GERMANY

    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

    More information

    AUSTRIA

    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

    More information

    AUSTRIA

    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

    More information

    GERMANY

    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

    More information

    SPAIN

    Asturias
    OVIEDO

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

    More information

    SPAIN

    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)

    More information

    SPAIN

    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)

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    FRANCE

    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)

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    SPAIN

    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

    More information

    AUSTRIA

    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

    More information

    ITALY

    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)

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    SPAIN

    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)

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    SPAIN

    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

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    SPAIN

    Cataluña
    BARCELONA

    Diagnosis of hereditary hearing loss (panel)
    Hospital de la Santa Creu i Sant Pau
    Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Gene panel test, Targeted gene test, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

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

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    SPAIN

    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)

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    SPAIN

    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)

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    SPAIN

    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)

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    SPAIN

    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)

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    SPAIN

    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)

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    SPAIN

    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)

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    SPAIN

    Cataluña
    ESPLUGUES DE LLOBREGAT

    Diagnosis of congenital deafness (panel)
    Hospital Sant Joan de Déu Barcelona
    Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Gene panel test, Deletion / Duplication analysis ngs sequencing (except wes)

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    SPAIN

    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

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    GERMANY

    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

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    GERMANY

    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

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    FRANCE

    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)

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    SPAIN

    Cataluña
    BARCELONA

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

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    SPAIN

    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)

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    GERMANY

    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)

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    ITALY

    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

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    GERMANY

    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

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    PORTUGAL

    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

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    AUSTRIA

    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

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    AUSTRIA

    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

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    HUNGARY

    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

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    DENMARK

    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)

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    PORTUGAL

    NORTE
    PORTO

    Diagnosis of Waardenburg syndrome type 3 (PAX3 gene)
    CGC Genetics / Centro de Genética Clínica
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

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