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FRANCE

OCCITANIE
MONTPELLIER

Accreditation Diagnosis of male pseudohermaphroditism due to androgen insensitivity (AR gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SWITZERLAND

Suisse Romande
GENÈVE

Accreditation 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
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : Array based techniques, FISH

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Molecular diagnosis of Sex Development Disorder (HSD17B3, SRD5A2, AR, LHCGR and NR5A1 gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation Molecular diagnosis of Androgen Insensitivity Syndrome (sequencing of coding regions)
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Bayern
REGENSBURG

Accreditation Diagnosis of androgen insensitivity (AR gene: sequencing, MLPA)
Zentrum für Humangenetik Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Nordrhein-Westfalen
MÜNSTER

Accreditation Diagnosis of androgen insensitivity (AR gene)
Institut für Humangenetik des Universitätsklinikums Münster
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SWEDEN

Region Stockholm
SOLNA

Accreditation Diagnosis of androgen insensitivity syndrome (AR gene)
Karolinska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of androgen insensitivity syndrome (AR gene)
Universitair Ziekenhuis Brussel
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation Diagnosis of androgen insensitivity syndrome (AR gene)
Genetica AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of androgen insensitivity (AR gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Niedersachsen
HANNOVER

Accreditation Diagnosis of androgen insensitivity (AR gene)
amedes genetics im MVZ wagnerstibbe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
MANNHEIM

Accreditation Diagnosis of androgen insensitivity (AR gene)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Diagnosis of androgen insensitivity (AR gene: sequencing)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
MARTINSRIED/PLANEGG

Accreditation Diagnosis of androgen insensitivity (AR gene)
MVZ Martinsried GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation Diagnosis of androgen insensitivity (AR gene)
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation Molecular diagnosis of Sex Determination For X-Linked Conditions For Disorders That Manifest Significantly Different In One Sex Compared To The Other by Targetted Mutation and Copy Number Analysis (Genes: AMELX, AMELY, SRY)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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UNITED KINGDOM

West Yorkshire
LEEDS

Accreditation Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis / Testing for known mutations in family members)
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis

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UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of androgen insensitivity (AR gene: sequencing, MLPA)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of androgen insensitivity (AR gene: sequencing, MLPA)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation Diagnosis of sex development disorders and peripheral infertilities (Panel)
AP-HP.Université Paris Saclay - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation Diagnosis of steroids resistance syndrome (Panel)
AP-HP.Université Paris Saclay - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation Diagnosis of androgen insensitivity (AR gene)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

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

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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation Diagnosis of androgen insensitivity syndrome (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Molecular diagnosis of Nonsyndromal Disorders of Sex Development (gene panel; DSD00v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of genetic infertility (panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

OCCITANIE
MONTPELLIER

Accreditation Diagnosis of disorder of sex development (Panel)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

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FRANCE

NOUVELLE AQUITAINE
POITIERS

Accreditation Diagnosis of developmental abnormalities (Whole exome)
CHU de Poitiers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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BELGIUM

OOST-VLAANDEREN
GENT

Accreditation Diagnosis of sex development disorders (gene panel)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

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ITALY

TRENTINO ALTO ADIGE
ROVERETO

Accreditation Diagnosis of hypospadias [panel of genes]
MAGI'S LAB srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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ITALY

TRENTINO ALTO ADIGE
ROVERETO

Accreditation Diagnosis of androgen insensitivity syndrome (AR gene)
MAGI'S LAB srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation Diagnosis of rare genetic developmental defect during embryogenesis (Whole exome)
Centre de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, Whole Exome Sequencing (WES)

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FRANCE

GRAND-EST
REIMS

Accreditation Diagnosis of developmental abnormalities (Whole exome)
CHU de Reims - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation 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
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation Diagnosis of developmental defects during embryogenesis (Whole exome)
Eurofins Biomnis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

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SPAIN

Asturias
OVIEDO

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

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UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation Molecular diagnosis of Androgen Insensitivity (Androgen Receptor (AR): sequencing and dosage)
Addenbrooke's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FINLAND

Finland
KUOPIO

Accreditation Molecular diagnosis of androgen insensitivity syndrome (AR gene)
University of Eastern Finland
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

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GERMANY

Schleswig-Holstein
KIEL

Accreditation Diagnosis of DSD (AR, CYP19A1, HSD17B3, NR5A1, SRD5A2 genes)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

ILE-DE-FRANCE
PARIS

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

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ITALY

LAZIO
ROMA

Molecular diagnosis of male pseudohermaphroditism due to androgen insensitivity (AR gene)
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Diagnosis of androgen insensitivity syndrome (AR gene)
Complejo Hospitalario Universitario de Santiago
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

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ITALY

TOSCANA
PISA

Diagnosis of male pseudohermaphroditism due to androgen insensitivity (AR gene)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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ITALY

LAZIO
ROMA

Molecular diagnosis of male pseudohermaphroditism due to androgen insensitivity (AR gene)
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Molecular diagnosis of male pseudohermaphroditism due to androgen insensitivity (AR gene)
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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DENMARK

Hovedstaden
COPENHAGEN

Molecular diagnosis of male pseudohermaphroditism due to androgen insensitivity (AR gene)
Rigshospitalet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of androgen insensitivity
Zotz|Klimas Standort Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Cataluña
BARCELONA

Diagnosis of androgen insensitivity syndrome (AR gene)
Hospital Clínic de Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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SPAIN

País Vasco
BARAKALDO

Diagnosis of androgen insensitivity syndrome (AR gene)
Instituto de Investigación sanitaria Biocruces Bizkaia
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

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ITALY

LIGURIA
GENOVA

Molecular diagnosis of androgen insensitivity syndrome (AR gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Molecular diagnosis of androgen insensivity syndrome
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Cataluña
BARCELONA

Diagnosis of the androgen insensitivity syndrome (AR gene; SNP array)
DiNA Science
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

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SPAIN

Andalucía
MÁLAGA

Diagnosis of androgen insensitivity syndrome (AR gene / CAG expansion)
Health in Code. Málaga
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques

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POLAND

Warszawa
WARSAW

Molecular diagnosis of androgen insensitivity syndrome (AR gene: search for a microdeletion)
NZOZ GENOMED
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of androgen insensitivity (AR gene: sequencing, MLPA)
Praxis für Humangenetik und Prävention
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of androgen insensitivity syndrome (AR gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

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POLAND

Warszawa
WARSAW

Badanie molekularne w kierunku zespolu niewrazliwosci na androgeny (gen AR: badanie mikrodelecji)
MEDGEN
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

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SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Diagnosis of androgen insensitivity syndrome (AR gene)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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CANADA

Colombie-Britannique
VANCOUVER

Molecular Diagnosis of Androgen Insensitivity Syndrome (Sequencing of AR)
BC Women's Hospital and Health Centre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : 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
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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SWITZERLAND

Suisse Romande
LAUSANNE

Diagnosis of androgen insensitivity syndrome (AR gene: complete sequencing)
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Sachsen
DRESDEN

Diagnosis of androgen insensitivity (AR gene)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

TOSCANA
PISA

Diagnosis of disorder of sex development [panel of genes]
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of complete androgen insensitivity syndrome (AR gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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HUNGARY

Közép-Magyarország
DEBRECEN

Molecular diagnosis of androgen insensitivity (AR gene)
University of Debrecen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of androgen insensitivity syndrome (AR gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of androgen insensitivity (AR gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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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, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of recessive diseases (panel, qCarrier Plus)
qGenomics
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : 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
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of muscular diseases (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : 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, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of genetic disorder of sex development (panel)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
BARCELONA

Diagnosis of disorder of sex development (panel)
Hospital Universitari Vall d'Hebron
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of partial androgen insensitivity syndrome (AR gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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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, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : 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
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : 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
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : 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
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

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ITALY

VENETO
PADOVA

Molecular diagnosis of androgen resistance syndrome (AR gene)
Policlinico Universitario di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Sachsen-Anhalt
MAGDEBURG

Molecular diagnosis of androgen insensitivity
Universitätsklinikum Magdeburg A.ö.R
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

VENETO
VERONA

Molecular cytogenetics diagnosis of male pseudohermaphroditism due to androgen insensitivity
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Roma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

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GERMANY

Schleswig-Holstein
LÜBECK

Diagnosis of androgen insensitivity (AR gene)
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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PORTUGAL

SUL
LISBOA

Molecular diagnosis of male pseudohermaphroditism due to androgen insensitivity (AR gene)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

PUGLIA
CASTELLANA GROTTE

Molecular diagnosis of male pseudohermaphroditism due to androgen insensitivity (AR gene)
IRCCS "Saverio De Bellis"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LOMBARDIA
MILANO

Diagnosis of androgen insensitivity (AR gene)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques

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GREECE

ATTIKI
ATHENS

Molecular diagnosis of male pseudohermaphroditism due to androgen insensitivity
"Aghia Sophia" Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

EMILIA ROMAGNA
BOLOGNA

Diagnosis of androgen insensitivity syndrome (AR gene)
IRCCS Policlinico Sant'Orsola
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Methylation analysis, Detection of microdeletions/microduplications
Technique(s) : Sanger sequencing, MLPA based techniques

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ITALY

ABRUZZO
CHIETI

Molecular diagnosis of androgen insensivity syndrome (AR gene)
Università degli Studi "G. D'Annunzio" - CESI-Met
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

MARCHE
JESI

Molecular diagnosis of male infertility with normal virilisation due to acquired testicular defect associated with mycoplasma infection
BIOAESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LOMBARDIA
BRESCIA

Molecular diagnosis of androgen insensitivity syndrome (AR gene)
ASST Spedali Civili di Brescia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Baden-Württemberg
TÜBINGEN

Diagnosis of androgen insensitivity syndrome (hormone profiles)
Universitäts-Frauenklinik Tübingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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PORTUGAL

NORTE
PORTO

Molecular diagnosis of Androgen insensitivity syndrome (AR gene: Sequencing and deletion/duplication analysis by MLPA)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Prenatal and postnatal molecular diagnosis of androgen insensitivity syndrome (AR gene: sequence of exons 2-8)
University Hospital Bratislava - Stare mesto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

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POLAND

Lodz
LODZ

Molecular diagnosis of androgen insensitivity syndrome (AR gene sequencing exons 2-8)
Centralny Szpital Kliniczny
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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MOROCCO

Rabat
RABAT

Molecular diagnosis of male infertility due to Y chromosome deletions (AZF)
Institut National d'Hygiène
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

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ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Diagnosis of androgen insensitivity syndrome (AR gene)
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), Array based techniques

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of androgen insensitivity (AR gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

LOMBARDIA
MILANO

Diagnosis of X chromosome inactivation (HUMARA test)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Other

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