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    GERMANY

    Nordrhein-Westfalen
    DORTMUND

    Diagnosis of dystonia (NGS screening panel, 31 genes)
    Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
    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

    Rheinland-Pfalz
    INGELHEIM AM RHEIN

    Diagnosis of dopa-responsive dystonia (GCH1, TH 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
    GERMANY

    Mecklenburg-Vorpommern
    ROSTOCK

    Diagnosis of dystonias (ATP1A3, GCH1, MR1(PNKD), PRKRA, SGCE, TH, THAP1, TOR1A genes)
    Diagenom GmbH
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region sanger sequencing

    More information

    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
    NETHERLANDS

    Noord-Holland
    AMSTERDAM

    Diagnosis of Neurotransmission Anomalies (Analyte: Free Catecholamines, Metanephrines, MHPG and Phenolic Acids)
    Amsterdam UMC, locatie AMC
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Biochemical analysis

    More information

    Accreditation
    NETHERLANDS

    Noord-Holland
    AMSTERDAM

    Diagnosis of Biogenic Amine Metabolism Disorders (Analyte: Biogene Amines (HVA, 5-HIAA, VA and MHPG) and 5-Hydroxytryptophan)
    Amsterdam UMC, locatie AMC
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Biochemical analysis

    More information

    Accreditation
    GERMANY

    Baden-Württemberg
    FREIBURG

    Diagnosis of dopa-responsive dystonia (GCH1, SPR, TH 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
    NETHERLANDS

    Gelderland
    NIJMEGEN

    Molecular diagnosis of Movement 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
    NETHERLANDS

    Gelderland
    NIJMEGEN

    Diagnosis of Metabolic 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
    SWITZERLAND

    Suisse Alémanique
    ZÜRICH

    Diagnosis of Segawa syndrome, autosomal recessive (TH gene analysis, monoamine neurotransmitter metabolites in CSF)
    Universitäts - Kinderspital Zürich - Eleonorenstiftung
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics, Biochemical analysis
    Service(s) : Targeted gene test

    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)

    More information

    Accreditation
    GERMANY

    Bayern
    MÜNCHEN

    Diagnosis of rare dystonia (NGS screening panel: 56 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), sanger sequencing

    More information

    Accreditation
    GERMANY

    Bayern
    MÜNCHEN

    Heterozygote screening by NGS Inherited Disease Panel (Kingsmore panel)
    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), sanger sequencing

    More information

    Accreditation
    SPAIN

    Cataluña
    L'HOSPITALET DE LLOBREGAT

    Diagnosis of dopa-responsive dystonia (gene 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), mlpa based techniques

    More information

    Accreditation
    GERMANY

    Bayern
    MÜNCHEN

    Diagnosis of dopa-responsive dystonia (GCH1, TH 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), sanger sequencing

    More information

    Accreditation
    GERMANY

    Baden-Württemberg
    HEIDELBERG

    Diagnosis of dopa-responsive dystonia (GCH1, SPR, TH genes)
    Institut für Humangenetik am Universitätsklinikum Heidelberg
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Targeted gene test, Sequence analysis: entire coding region sanger sequencing

    More information

    Accreditation
    GERMANY

    Bayern
    MÜNCHEN

    Diagnosis of dopa-responsive dystonia (GCH1, SPR, TH 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
    FRANCE

    PROVENCE-ALPES-COTE D'AZUR
    MARSEILLE

    Diagnosis of dystonia (Panel)
    CHU de Marseille - Hôpital de la Timone
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Gene panel test, Targeted gene test, Sequence analysis: entire coding region sanger sequencing

    More information

    Accreditation
    FRANCE

    ILE-DE-FRANCE
    PARIS

    Diagnosis of dystonia (Panel)
    AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
    Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Targeted gene test, Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

    More information

    Accreditation
    GERMANY

    Baden-Württemberg
    TÜBINGEN

    Diagnosis of rare neurodegenerative diseases and movment disorder (NGS screening panel: 392 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
    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)

    More information

    Accreditation
    BELGIUM

    OOST-VLAANDEREN
    GENT

    Diagnosis of rare movement disorders (gene panel)
    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
    ITALY

    TRENTINO ALTO ADIGE
    ROVERETO

    Diagnosis of movement disorders [panel of genes]
    MAGI'S LAB srl
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Targeted gene test

    More information

    Laboratory officially designated for this diagnostic test      Accreditation
    BELGIUM

    ARRONDISSEMENT BRUSSELS-CAPITAL
    BRUSSELS

    Diagnosis of autosomal recessive dopa-responsive dystonia (TH gene)
    Universitair Ziekenhuis Brussel
    Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region sanger sequencing

    More information

    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)

    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
    NETHERLANDS

    Noord-Holland
    AMSTERDAM

    Diagnosis of Biopterin Metabolism Defects (Analyte: Pterins)
    Amsterdam UMC, locatie AMC
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Biochemical analysis

    More information

    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)

    More information

    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)

    More information

    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)

    More information

    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

    AUVERGNE-RHONE-ALPES
    LYON

    Diagnosis of inborn errors of metabolism (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
    NETHERLANDS

    Gelderland
    NIJMEGEN

    'Molecular and biochemical diagnosis of autosomal recessive dopa-responsive dystonia (TH gene; Analyte: tyrosine hydroxylase)'
    Radboudumc - Radboud universitair medisch centrum
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics

    More information

    Accreditation
    NETHERLANDS

    Noord-Holland
    AMSTERDAM

    Diagnosis of Tyrosine Hydroxylase Deficiency (TH gene)
    Amsterdam UMC, locatie AMC
    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

    Accreditation
    NETHERLANDS

    Noord-Holland
    AMSTERDAM

    Molecular diagnosis of Autosomal Recessive Dopa-Responsive Dystonia (TH gene)
    Amsterdam UMC, locatie AMC
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Targeted gene test, Sequence analysis: entire coding region sanger sequencing

    More information

    Accreditation
    FRANCE

    ILE-DE-FRANCE
    PARIS

    Diagnosis of metabolic and transport disorders of neurotransmitters (Panel)
    CHU Paris - Hôpital Robert Debré
    Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Targeted gene test, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

    More information

    Accreditation
    ITALY

    LAZIO
    ROMA

    Diagnosis of neurotransmitter biosynthesis deficiency (TH gene)
    Policlinico Umberto I
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics, Biochemical analysis
    Service(s) : Targeted gene test, Sequence analysis: entire coding region sanger sequencing

    More information

    SPAIN

    Madrid
    CANTOBLANCO

    Diagnosis of autosomal recessive dopa-responsive dystonia (TH gene)
    Universidad Autónoma de Madrid. Facultad de Ciencias
    Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    Specialty(ies) : Molecular genetics, Biochemical analysis
    Service(s) : Targeted gene test, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), mlpa based techniques

    More information

    GERMANY

    Mecklenburg-Vorpommern
    ROSTOCK

    Diagnosis of dopa-responsive dystonia (GCH1, TH genes)
    CENTOGENE GmbH
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region sanger sequencing

    More information

    SPAIN

    Andalucía
    MÁLAGA

    Diagnosis of autosomal recessive dopa-responsive dystonia (TH gene)
    Health in Code. Málaga
    Purpose(s) : Antenatal diagnosis, 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

    GERMANY

    Sachsen
    DRESDEN

    Diagnosis of dopa-responsive dystonia (GCH1, SPR, TH 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

    Baden-Württemberg
    FREIBURG

    Diagnosis of dystonia and paroxysmal movement disorders (NGS screening panel: 48 genes)
    Institut für Humangenetik am Universitätsklinikum Freiburg
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

    More information

    FRANCE

    ILE-DE-FRANCE
    PARIS

    'Diagnosis of pterin metabolism disorders (dosage of neurotransmitters (MDGs MHPG , 5-HTP , 5-HIAA , HVA) and pterins (neopterin , biopterin and sepiapterin) in CSF ; DHPR enzyme activity in erythrocytes ; pterin analysis (neopterin and biopterin) in urine; assay of plasma phenylalanine)'
    Hôpital Necker-Enfants Malades
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Biochemical analysis

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    SPAIN

    Comunidad Valenciana
    ELCHE

    Diagnosis of autosomal recessive dopa-responsive dystonia (TH gene)
    Bioarray
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

    More information

    ITALY

    MOLISE
    POZZILLI

    Diagnosis of rare dystonia [panel of genes]
    Istituto Neurologico Mediterraneo - IRCCS Neuromed
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Gene panel test, Targeted gene test, Sequence analysis: entire coding region ngs sequencing (except wes), sanger sequencing

    More information

    AUSTRIA

    WIEN
    WIEN

    Molecular diagnosis of dystonia (ATP1A3, GCH1, GNAL, SGCE, SLC2A1, TH, THAP1, and TOR1A genes)
    Medizinische Universität Wien
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region sanger sequencing

    More information

    SPAIN

    Cataluña
    ESPLUGUES DE LLOBREGAT

    Diagnosis of recessive diseases (panel, qCarrier Plus)
    qGenomics
    Purpose(s) : Antenatal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

    More information

    SPAIN

    Madrid
    SAN SEBASTIÁN DE LOS REYES

    Diagnosis of dystonia (panel)
    LabGenetics - Laboratorio de Genética Clínica, S.L.
    Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

    More information

    SPAIN

    Madrid
    TRES CANTOS

    Diagnosis of dystonia (ATP1A3, GCH1, PRKRA, SGCE, TH, THAP1, TOR1A genes)
    Centro de estudios genéticos ATG Medical
    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

    SPAIN

    Madrid
    TRES CANTOS

    Diagnosis of rare genetic dystonia (panel)
    Centro de estudios genéticos ATG Medical
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region ngs sequencing (except wes)

    More information

    SPAIN

    Galicia
    A CORUÑA

    Diagnosis of rare genetic dystonia (panel - 24 genes)
    Health In Code. A Coruña
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Gene panel test

    More information

    SPAIN

    Galicia
    A CORUÑA

    Diagnosis of rare movement disorder (panel - 123 genes)
    Health In Code. A Coruña
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Gene panel test

    More information

    SPAIN

    Comunidad Valenciana
    PATERNA

    Diagnosis of rare genetic dystonia (panel)
    Sistemas Genómicos S.L.
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region whole exome sequencing (wes)

    More information

    FRANCE

    GRAND-EST
    VANDOEUVRE-LÈS-NANCY

    Diagnosis of rare inborn errors of metabolism (Whole exome)
    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)

    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

    ITALY

    CALABRIA
    MANGONE

    Molecular diagnosis of dopa-responsive dystonia (GCH1 and TH genes)
    CNR
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics

    More information

    ITALY

    SARDEGNA
    CAGLIARI

    Biochemical diagnosis of tyrosine hydroxylase deficiency
    Ospedale Regionale per le Microcitemie
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Biochemical analysis

    More information

    SPAIN

    Cataluña
    ESPLUGUES DE LLOBREGAT

    Diagnosis of autosomal recessive dopa-responsive dystonia (TH gene)
    Hospital Sant Joan de Déu Barcelona
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics, Biochemical analysis
    Service(s) : Targeted gene test

    More information

    SPAIN

    Cataluña
    ESPLUGUES DE LLOBREGAT

    Diagnosis of autosomal recessive dopa-responsive dystonia (HPLC analysis)
    Hospital Sant Joan de Déu Barcelona
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Biochemical analysis

    More information

    ITALY

    VENETO
    PADOVA

    Biochemical diagnosis of biogenic amine metabolism disorder
    Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Biochemical analysis

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    PORTUGAL

    NORTE
    PORTO

    Molecular diagnosis of autosomal recessive dopa-responsive dystonia (TH gene: sequencing of entire coding region)
    CGC Genetics / Centro de Genética Clínica
    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

    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

    SPAIN

    Cataluña
    BARCELONA

    Diagnosis of rare inborn errors of metabolism (panel)
    Hospital Universitari Vall d'Hebron
    Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Gene panel test, Sequence analysis: entire coding region sanger sequencing

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    PORTUGAL

    NORTE
    PORTO

    Diagnosis of dopa-responsive dystonia (GCH1 gene)
    CGC Genetics / Centro de Genética Clínica
    Purpose(s) : Post-natal diagnosis
    Specialty(ies) : Molecular genetics
    Service(s) : Sequence analysis: entire coding region sanger sequencing

    More information