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                                                                      Laboratory officially designated for this diagnostic test =Laboratory officially designated for this diagnostic test            Accreditation =Accreditation ;

    GERMANY

    Bayern
    MÜNCHEN

    Diagnosis of rare syndromic intellectual disability (NGS screening panel: 640 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
    GERMANY

    Baden-Württemberg
    FREIBURG

    Diagnosis of combined pituitary hormone deficiency (LHX3, LHX4, POU1F1, PROP1 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

    Nordrhein-Westfalen
    KÖLN

    Diagnosis of rare genetic intellectual disability (NGS screening panel: ~2500 genes)
    Institut für Humangenetik am Universitätsklinikum Köln
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

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    Accreditation
    FRANCE

    ILE-DE-FRANCE
    PARIS

    Diagnosis of pituitary deficiency (Panel)
    AP-HP.Sorbonne Université - Hôpital d'Enfants Armand-Trousseau
    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
    GERMANY

    Baden-Württemberg
    FREIBURG

    Diagnosis of short stature-pituitary and cerebellar defects-small sella turcica syndrome (LHX4 gene)
    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

    Rheinland-Pfalz
    INGELHEIM AM RHEIN

    Diagnosis of short stature-pituitary and cerebellar defects-small sella turcica syndrome (LHX4 gene)
    Bioscientia Institut für Medizinische Diagnostik GmbH
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region sanger sequencing

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    Accreditation
    FRANCE

    PROVENCE-ALPES-COTE D'AZUR
    MARSEILLE

    Diagnosis of isolated growth hormone deficiency associated with extrapituitary malformations (Panel)
    CHU de Marseille - Hôpital de la Conception
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Targeted gene test, Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

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    Accreditation
    SPAIN

    Cataluña
    L'HOSPITALET DE LLOBREGAT

    Diagnosis of genetic endocrine growth disease (gene panel)
    Reference Laboratory Genetics
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

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    Accreditation
    FRANCE

    HAUTS-DE-FRANCE
    AMIENS

    Diagnosis of intellectual disability (Clinical exome)
    CHU Amiens-Picardie - Site Sud
    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

    ILE-DE-FRANCE
    PARIS

    Diagnosis of 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

    AUVERGNE-RHONE-ALPES
    LYON

    Diagnosis of rare genetic syndromic intellectual disability (Whole exome)
    Eurofins Biomnis
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

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    Accreditation
    FRANCE

    BRETAGNE
    BREST

    Diagnosis of intellectual disability (Whole exome)
    CHU de Brest - Hôpital de la Cavale Blanche
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

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    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)

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    Accreditation
    FRANCE

    BRETAGNE
    RENNES

    Diagnosis of neurodevelopmental disorders (Whole exome)
    CHU de Rennes - Hôpital Pontchaillou
    Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

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    Accreditation
    FRANCE

    PAYS DE LA LOIRE
    NANTES

    Diagnosis of intellectual disability (Whole exome)
    CHU de Nantes - Institut de Biologie
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

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    Accreditation
    FRANCE

    GRAND-EST
    VANDOEUVRE-LÈS-NANCY

    Diagnosis of intellectual disability (Clinical exome)
    CHU de Nancy - Hôpitaux de Brabois
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

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    Accreditation
    GERMANY

    Bayern
    MÜNCHEN

    Diagnosis of Intellectual Disability (NGS panel: 375 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

    AUVERGNE-RHONE-ALPES
    LYON

    Diagnosis of intellectual disability (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

    GRAND-EST
    METZ

    Diagnosis of rare intellectual disability of genetic origin
    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
    FRANCE

    GRAND-EST
    METZ

    Diagnosis of rare syndromic intellectual disability of genetic origin
    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 intellectual disability 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
    SPAIN

    Madrid
    SAN SEBASTIÁN DE LOS REYES

    Diagnosis of pituitary stalk interruption syndrome (HESX1 gene)
    LabGenetics - Laboratorio de Genética Clínica, S.L.
    Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Targeted gene test, Sequence analysis: entire coding region sanger sequencing

    More information

    SPAIN

    Madrid
    MADRID

    Diagnosis of endocrinopathies (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)

    More information

    SPAIN

    Madrid
    MADRID

    Diagnosis of ocular malformations (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)

    More information

    SPAIN

    Cataluña
    ESPLUGUES DE LLOBREGAT

    Diagnosis of Rett syndrome and epilepsy (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)

    More information

    ITALY

    LOMBARDIA
    PAVIA

    Diagnosis of short proportionate stature [panel of genes]
    Microgenomics S.r.l.
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

    More information

    SPAIN

    Cataluña
    ESPLUGUES DE LLOBREGAT

    Diagnosis of disorders of sex differentiation (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)

    More information

    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)

    More information

    SPAIN

    Extremadura
    BADAJOZ

    Diagnosis of rare genetic intellectual disability
    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)

    More information

    PORTUGAL

    NORTE
    PORTO

    Mental retardation, X-linked syndromic, Lubs type (gene MECP2)
    CGC Genetics / Centro de Genética Clínica
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Deletion / Duplication analysis pcr based techniques, mlpa based techniques

    More information