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                                                                  Laboratory officially designated for this diagnostic test =Laboratory officially designated for this diagnostic test            Accreditation =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, Cytogenetics
Service(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size array based techniques, fish

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Accreditation
NETHERLANDS

Zuid-Holland
ROTTERDAM

Molecular diagnosis of Adrenal Insufficiency (NR5A1 gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region sanger sequencing

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Accreditation
NETHERLANDS

Gelderland
NIJMEGEN

Molecular diagnosis of Congenital Adrenal Insufficiency (CYP11A1 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region sanger sequencing

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Accreditation
GERMANY

Nordrhein-Westfalen
DORTMUND

Diagnosis of disorder 46,XY difference of sex development (NGS screening panel: 41 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
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

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of primary adrenal insufficiency (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa based techniques

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Accreditation
FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Diagnosis of sex development disorders and peripheral infertilities (Panel)
AP-HP.Université Paris Saclay - Hôpital de Bicêtre
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, pcr based techniques, mlpa based techniques

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Accreditation
SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Diagnosis of disorder of sex development
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Service(s) : Detection of chromosome alterations large in size karyotyping

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Accreditation
NETHERLANDS

Utrecht
UTRECHT

Diagnosis of Non-syndromic Disorder of Sex Development (gene panel; DSD00v21.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

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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)

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Accreditation
BELGIUM

OOST-VLAANDEREN
GENT

Diagnosis of sex development 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), whole exome sequencing (wes)

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Accreditation
ITALY

TRENTINO ALTO ADIGE
ROVERETO

Diagnosis of hypospadias [panel of genes]
MAGI'S LAB srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis ngs sequencing (except wes), sanger sequencing

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Laboratory officially designated for this diagnostic test      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 mutation analysis, Sequence analysis: entire coding region sanger sequencing, whole exome sequencing (wes)

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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)

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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)

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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)

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Accreditation
SPAIN

Asturias
OVIEDO

Diagnosis of disorder of sex development
Hospital Universitario Central de Asturias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Service(s) : Detection of chromosome alterations large in size karyotyping

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Accreditation
SPAIN

Madrid
ALCALÁ DE HENARES

Diagnosis of disorder of sex development
Hospital Universitario Príncipe de Asturias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Service(s) : Detection of chromosome alterations large in size karyotyping

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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)

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Accreditation
FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of disorder sex development (Panel)
CHU Paris - Hôpital Robert Debré
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing

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Accreditation
ITALY

TOSCANA
PISA

Diagnosis of 46, XY disorder of sex development due to 5-alpha-reductase deficiency (NR5A1, SRD5A2 genes)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
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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SPAIN

País Vasco
BARAKALDO

Diagnosis of disorders of sex development (panel)
Instituto de Investigación sanitaria Biocruces Bizkaia
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), sanger sequencing, mlpa based techniques

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SPAIN

Madrid
MADRID

Diagnosis of disorders of sex development (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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ITALY

LOMBARDIA
PAVIA

Diagnosis of sexual development disorders [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)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of mitochondrial disorders due to nuclear DNA anomalies (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Service(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

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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) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes)

More information

SPAIN

Cataluña
BARCELONA

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

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SPAIN

Cataluña
BARCELONA

Diagnosis of genetic chronic primary adrenal insufficiency (panel)
Hospital Universitari Vall d'Hebron
Purpose(s) : Antenatal diagnosis, 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) : Sequence analysis: entire coding region, Deletion / Duplication analysis ngs sequencing (except wes), array based techniques, whole exome sequencing (wes)

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SPAIN

Cataluña
SABADELL

Diagnosis of disorder of sex development
Cerba Internacional Sabadell
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Service(s) : Detection of chromosome alterations large in size fish, karyotyping

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SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of disorder of sex development
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Service(s) : Detection of chromosome alterations large in size karyotyping

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SPAIN

Cataluña
BARCELONA

Diagnosis of disorder of sex development
Hospital Clínic de Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Service(s) : Detection of chromosome alterations large in size karyotyping

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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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GERMANY

Hessen
GIEßEN

Diagnostics and monitoring of steroid related disorders by gas chromatography-mass spectrometry or liquid chromatography-tandem mass spectrometry (steroid metabolomics)
Kinderklinik des UKGM am Standort Gießen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Service(s) : Analyte / Enzyme assay, Protein expression immunohistochemistry

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ITALY

EMILIA ROMAGNA
BOLOGNA

Diagnosis of gonadal dysgeneses and 46,XY disorder of sex development (NR5A1 gene)
IRCCS Azienda Ospedaliero Universitaria di Bologna, Policlinico di Sant'Orsola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Service(s) : Sequence analysis: entire coding region, Methylation analysis, Detection of microdeletions/microduplications sanger sequencing, mlpa based techniques

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PORTUGAL

NORTE
PORTO

Diagnosis of congenital adrenal insufficiency (CYP11A1 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

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