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FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation
Biochemical diagnosis of congenital adrenal hyperplasia (21-hydroxylase, 11-hydroxylase, 3-beta-hydroxysteroid dehydrogenase)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP11B1, CYP17A1, CYP21A2, HSD3B2 genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP11B1, CYP17A1, CYP21A2, CYP17A1, HSD3B2 genes)
Praxisgemeinschaft für Laboratoriumsmedizin und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
Medizinisches Versorgungszentrum Humane Genetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene: sequencing / MLPA; CYP11B1, HSD3B2, POR genes: sequencing)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2, CYP11B1, and HSD3B2 genes)
Medizinische Universität Innsbruck
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP11B1, CYP17A1, CYP21A2, HSD3B2 genes)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP11B1, CYP17A1, CYP21A2, HSD3B2 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

BELGIUM

ANTWERPEN
ANTWERPEN-EDEGEM

Accreditation
Molecular diagnosis of Congenital adrenal hyperplasia (CYP21 gene)
University Hospital of Antwerp - UZA- Centrum Medische Genetica - CMG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater Manchester
MANCHESTER

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP11B1, CYP21A2 and HSD3B2 genes)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2, HSD3B2 genes)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
MÖNCHENGLADBACH

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
Medizinische Versorgungszentrum Dr.Stein + Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Congenital Adrenal Hyperplasia due to 11-beta Hydroxylase Deficiency (CYP11B1 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Congenital Adrenal Hyperplasia due to 3-beta Hydroxysteroid Dehydrogenase Deficiency (HSD3B2 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency (POR gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Molecular diagnosis of Congenital Adrenal Hyperplasia (DAX1 analysis)
International Centre for Life
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CY11B1, CYP21A2, HSD3B2 genes)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

Greater London
LONDON

Accreditation
Biochemical diagnosis of Congenital adrenal hyperplasia (Analytes: 17 hydroxyprogesterone, renin, aldosterone, DHEAS & urine steroid profiles)
Biochemistry services - UCL Hospitals Foundation NHS Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2, CYP11B1genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Sachsen
WEIßWASSER

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP11B1 gene)
Praxis Dr. Mato Nagel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Congenital adrenal hyperplasia due to 11-Beta Hydroxylase deficiency (CYP11B1 gene: whole gene sequence/prenatal diagnosis/mutation analysis)
Biochemistry services - UCL Hospitals Foundation NHS Trust
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP17A1, CYP21A2, HSD3B2 genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP11B1, CYP21A2 and HSD3B2 genes)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
HEIDELBERG

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
Institut für Humangenetik am Universitätsklinikum Heidelberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency (CYP21A2 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (CYP17A1 gene: whole gene sequence/prenatal diagnosis/mutation analysis)
Biochemistry services - UCL Hospitals Foundation NHS Trust
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
NEU-ULM

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
Paxis und Labor Dr. med Karl Mehnert
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
REGENSBURG

Accreditation
Molecular diagnosis of P450 oxidoreductase deficiency (POR gene: sequencing)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Sachsen
DRESDEN

Accreditation
Neonatal screening : Biochemical diagnosis of congenital adrenal hyperplasia
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
Institut für Medizinische & Molekulare Diagnostik AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Congenital Adrenal Hyperplasia due to 17-alpha-Hydroxylase Deficiency (CYP17A1 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (HSD3B2: whole gene sequencing)
Biochemistry services - UCL Hospitals Foundation NHS Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular diagnosis of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency (CYP21A2 gene)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP11B1, CYP21A2 and HSD3B2 genes)
GenteQ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Sachsen
LEIPZIG

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene: sequencing / MLPA)
MVZ Labor Dr. Reising-Ackermann und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
Labor PD Dr. Volkmann und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

BELGIUM

LIEGE
LIEGE

Accreditation
Neonatal screening: Biochemical diagnosis of Congenital Adrenal Hyperplasia (17-OH-progesterone: ELISA, bloodspots)
CHU Sart Tilman - Liège
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene): analysis of the entire coding region
Instituto de Biologia Molecular e Celular
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CY11B1, CYP21A2, HSD3B2 genes)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of congenital lipoid adrenal hyperplasia (STAR gene: sequencing)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

FRANCHE-COMTE
BESANÇON

Accreditation
Neonatal screening of congenital adrenal hyperplasia
CHRU de Besançon - Hôpital Saint-Jacques
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene: APEX and MPLA)
Asper Biotech Ltd.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP11B1, CYP17A1, CYP21A2, POR genes)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

UNITED KINGDOM

Avon
BRISTOL

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia.Targeted mutation analysis and MLPA (CYP11B1 gene)
Unilabs Lausanne
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : MLPA based techniques

UNITED KINGDOM

Greater London
LONDON

Accreditation
Non-Invasive Prenatal diagnosis (NIPD) to determine Gender in Pregnancies at risk of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency (CYP21A2 gene)
Great Ormond Street Hospital for Children, York House
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Molecular diagnosis of Congenital Adrenal Hyperplasia (NR0B1 gene: Sequencing of the entire coding region of gene (s) / Testing for known mutations in family members)
International Centre for Life
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (POR gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (HSD3B2 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (CYP17A1 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (CYP11B1 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of congenital lipoid adrenal hyperplasia (STAR gene)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of sex development disorders (Panel)
GHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation
Diagnosis of mitochondrial diseases (Panel)
CHU de Nice - Hôpital l'Archet 2
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

UNITED KINGDOM

West Yorkshire
LEEDS

Accreditation
Molecular diagnosis of Congenital Adrenal Hyperplasia (MLPA for dosage/genomic rearrangements plus analysis of common point mutations, CYP21A2 gene)
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : MLPA based techniques

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Biochemical diagnosis of Congenital adrenal hyperplasia (Analyte: 17-hydroxyprogesterone)
The Great North Children's Hospita, Royal Victoria Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
HEIDELBERG

Accreditation
Molecular diagnosis of 3-beta-hydroxysteroid dehydrogenase deficiency (HSD3B2 gene)
Zentrallabor des Universitätsklinikums Heidelberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Accreditation
Preimplantation genetic diagnosis of the congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
Sistemas Genómicos S.L.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Hampshire
SOUTHAMPTON

Accreditation
Biochemical diagnosis of Congenital Adrenal Hyperplasia, due to 21-hydroxylase deficiency, classic form (Analyte: 17-hydroxyprogesterone)
Southampton General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Comunidad Valenciana
PATERNA

Accreditation
Preimplantation genetic diagnosis of congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (POR gene)
Sistemas Genómicos S.L.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

ANTWERPEN
ANTWERPEN

Accreditation
Neonatal screening: Biochemical diagnosis of Congenital Adrenal Hyperplasia (17-OH-progesterone: GSP (Delfia method), bloodspots)
Provinciaal Centrum voor opsporing van Metabole Aandoeningen (PCMA) - Antwerpen
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Berlin
BERLIN

Accreditation
Molecular diagnosis of congenital adrenal hyperplasia (CYP11B1, CYP17A1, CYP21A2, HSD3B2 genes)
IFLb Laboratoriumsmedizin Berlin GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Niedersachsen
RONNENBERG

Accreditation
Newborn screening : Biochemical diagnosis of congenital adrenal hyperplasia (Immunoassay, tandem mass spectrometry, steroid profile by LC-MSMS)
Screening-Labor Hannover
Purpose(s) : Post-natal diagnosis, Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay, Protein expression
Technical procedure(s) : Immunohistochemistry

FRANCE

ILE-DE-FRANCE
PARIS

Neonatal screening of congenital adrenal hyperplasia
CHU Paris - Hôpital Robert Debré
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

RHONE-ALPES
BRON

Neonatal screening of congenital adrenal hyperplasia
CHU de Lyon HCL - GH Est
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

RHONE-ALPES
GRENOBLE

Neonatal screening of congenital adrenal hyperplasia
CHU de Grenoble site Nord - Institut de biologie et de pathologie
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

RHONE-ALPES
BRON

Molecular diagnosis of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (CYP11B1 gene)
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
Technical procedure(s) : Sanger sequencing, MLPA based techniques

FRANCE

PAYS DE LA LOIRE
ANGERS

Neonatal screening of congenital adrenal hyperplasia
CHU d'Angers
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing, MLPA based techniques

ITALY

LAZIO
ROMA

Molecular diagnosis of 21-hydroxylase deficiency (CYP21A2 gene)
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A1 gene)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
ESSEN

Molecular diagnosis of congenital adrenal hyperplasia (CYP11B1, CYP21A2 genes)
Laborärztlich-humangenetische Partnerschaft Eiben - Glaubitz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

ITALY

SARDEGNA
CAGLIARI

Molecular diagnosis of congenital adrenal hyperplasia (CYP21 gene)
Ospedale Regionale per le Microcitemie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2, CYP11B1, CYP17A1, HSD3B2 genes)
CHUS - Complejo Hospitalario Universitario de Santiago
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
IRCCS Ospedale San Raffaele
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

SUL
LISBOA

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

PIEMONTE
TORINO

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
A.O. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

RHONE-ALPES
BRON

Molecular diagnosis of congenital adrenal hyperplasia due to cytochrome POR deficiency (POR gene)
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
Technical procedure(s) : Sanger sequencing, MLPA based techniques

PORTUGAL

NORTE
PORTO

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene): analysis of the entire coding region and UTR 5' and deletion/duplication analysis.
Faculdade de Medicina da Universidade do Porto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of congenital adrenal hyperplasia (CYP17A1, CYP21A2, CYP11B1, HSD3B2 genes)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of congenital adrenal hyperplasia (CYP11B1, CYP17A1, CYP21A2, HSD3B2 genes)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

DENMARK

Hovedstaden
COPENHAGEN

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene: copy number estimation and complete sequencing)
Rigshospitalet
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Madrid
MADRID

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2, CYP11B1 and CYP17A1 genes)
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CYPRUS

Cyprus
NICOSIA

Full mutation analysis via sequencing for Congenital Adrenal Hyperplasia (CYP21A2 gene 6p31.23)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2, CYP11B1, HSD3B2 genes)
Centro de Diagnóstico Biomédico - CDB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Molecular diagnosis of congenital lipoid adrenal hyperplasia (STAR gene)
Centro de Diagnóstico Biomédico - CDB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Asturias
OVIEDO

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (mutations in CYP21A2 gene)
Hospital Universitario Central de Asturias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of congenital adrenal hyperplasia
Acibadem healthcare group
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Neonatal screening of congenital adrenal hyperplasia
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Nordrhein-Westfalen
MÜNSTER

Molecular diagnosis of congenital adrenal hyperplasia (CYP11B1, CYP21A2 genes)
Institut für Humangenetik des Universitätsklinikums Münster
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
BONN

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2, HSD3B2 genes)
Institut für Klinische Genetik Bonn
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

NORWAY

Østlandet
OSLO

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
Oslo University Hospital, Ullevaal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Hessen
FRANKFURT AM MAIN

Molecular diagnosis of congenital adrenal hyperplasia (CYP11B1, CYP17A1, CYP21A2 genes: sequencing/MLPA)
bio.logis Zentrum für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

GERMANY

Hamburg
HAMBURG

Molecular diagnosis of congenital adrenal hyperplasia (CY11B1, CYP17A1, CYP21A2, HSD3B2 genes: sequencing / MLPA)
Pränatalzentrum Hamburg und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of congenital adrenal hyperplasia. CYP21A2 and CYP11B genes.
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Warszawa
WARSAW

Molecular diagnostics of congenital adrenal hyperplasia (CYP21A2 gene)
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Purpose(s) : 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
Technical procedure(s) : Sanger sequencing, MLPA based techniques

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of the congenital adrenal hyperplasia (CYP21A2 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of congenital adrenal hyperplasia. HSD3B2 gene.
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
HEIDELBERG

Molecular diagnosis of congenital adrenal hyperplasia (CY11B1 and HSD3B2 genes: sequencing, CYP21A2 gene: sequencing/ MLPA)
Molekulargenetisches Labor der Gemeinschaftspraxis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
HEIDELBERG

Molecular diagnosis of congenital lipoid adrenal hyperplasia (STAR gene: sequencing)
Molekulargenetisches Labor der Gemeinschaftspraxis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
HEIDELBERG

Molecular diagnosis of P450 oxidoreductase deficiency (POR gene: sequencing)
Molekulargenetisches Labor der Gemeinschaftspraxis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

RHONE-ALPES
BRON

Molecular diagnosis of congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (CYP17A1 gene)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

RHONE-ALPES
BRON

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
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
Technical procedure(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

RHONE-ALPES
BRON

Molecular diagnosis of congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (HSD3B2 gene)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

RHONE-ALPES
BRON

Molecular diagnosis of congenital lipoid adrenal hyperplasia (STAR and CYP11A1 genes)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
BONN

Molecular diagnosis of congenital adrenal lipoid hyperplasia (CYP11A1 gene)
Institut für Klinische Genetik Bonn
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Andalucía
ARMILLA

Molecular diagnosis of congenital adrenal hyperplasia (entire coding sequence of CYP11B1, CYP17A1, CYP21A2 and HSD3B2 genes)
Lorgen G.P.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Cataluña
BARCELONA

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
Hospital de la Santa Creu i Sant Pau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Warszawa
WARSAW

Molecular diagnosis of congenital adrenal hyperplasia (Analysis of mutations in CYP21A2 coding region)
NZOZ GENOMED
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Preimplantation genetic diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
Reprogenetics Spain S.A.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, classic form (CYP21A2 gene)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
MADRID

Diagnosis of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (CYP11B1 gene)
Hospital Materno Infantil Gregorio Marañón
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Madrid
MADRID

Diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
Hospital Materno Infantil Gregorio Marañón
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

SPAIN

Madrid
MADRID

Diagnosis of congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (POR gene)
Hospital Materno Infantil Gregorio Marañón
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Madrid
MADRID

Diagnosis of congenital lipoid adrenal hyperplasia (STAR gene)
Hospital Materno Infantil Gregorio Marañón
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (HSD3B2 gene / entire coding sequence)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

GERMANY

Bayern
REGENSBURG

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
Gemeinschaftspraxis Dr. Susanne Ebner und Dr. Susanne Markus
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2, HSD3B2 genes: sequencing / MLPA)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

ITALY

PIEMONTE
TORINO

Molecular diagnosis of congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (CYP17A1 gene)
A.O. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene): Target mutation analysis - panel of mutations (P30L, 659A>G, 8bp DEL, I172N, e6 cluster, V281L, F306+t, Q318X, R356W, P453S) and sequence analysis of the entire coding region and deletion/duplication analysis by MLPA
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques

SPAIN

Cataluña
BARCELONA

Preimplantation genetic diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
CME Barcelona
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Berlin
BERLIN

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
Praxis für medizinische Genetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
ULM

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
MVZ Humangenetik Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Adrenogenital syndrome (CYP11B1, CYP17A1, CYP21A2, and HSD3B2 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

La Rioja
LOGROÑO

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
CIBIR - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Warszawa
WARSAW

Molecular diagnosis of congenital adrenal hyperplasia (Analysis of mutations in CYP21A2 coding region)
MEDGEN
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
Hospital Universitari General Vall d'Hebron
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
VERONA

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Roma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene / MLPA, mutations panel)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques

SPAIN

Castilla - León
SALAMANCA

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene / sequencing)
Universidad de Salamanca. Facultad de Medicina
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Castilla - León
SALAMANCA

Molecular diagnosis of congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (CYP17A1 gene / sequencing)
Universidad de Salamanca. Facultad de Medicina
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
ALICANTE

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene / sequencing mutations)
Instituto Bernabeu Biotech
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
ViennaLab Diagnostics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
Allgemeines Krankenhaus der Stadt Wien
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (CYP17A1 gene: sequencing of the entire coding region and deletion/duplication analysis by MLPA)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

CANADA

Alberta
CALGARY

Molecular Diagnosis of Congenital Adrenal Hyperplasia (sequence analysis and MLPA of CYP21A2 coding regions)
Alberta Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (CYP11B1 gene: sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (CYP11B1 gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (POR gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CYPRUS

Cyprus
NICOSIA

Full mutation analysis for Congenital Adrenal Hyperplasia via MLPA (CYP21A2 gene 6p31.23)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : MLPA based techniques

CYPRUS

Cyprus
NICOSIA

Analysis of known mutation for Congenital Adrenal Hyperplasia (CYP21A2 gene 6p31.23)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

CYPRUS

Cyprus
NICOSIA

DNA storage/extraction of CYP21A2 for Congenital Adrenal Hyperplasia (CYP21A2 gene 6p31.23)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (POR gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

HUNGARY

Közép-Magyarország
BUDAPEST

Mutation screening in Congenital Adrenal Hyperplasia
2nd Department of Internal Medicine, Semmelweis University
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (HSD3B2 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (CYP17A1 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of syndromic craniosynostosis (panel)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

RHONE-ALPES
BRON

Diagnosis of sex development disorders (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

RHONE-ALPES
BRON

Diagnosis of primary adrenal insufficiency (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of sex development disorders (Panel)
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

LANGUEDOC-ROUSSILLON
MONTPELLIER

Diagnosis of bone diseases (Panel)
CHRU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (CYP11B1 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of congenital lipoid adrenal hyperplasia (STAR gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

BOURGOGNE
DIJON

Neonatal screening of congenital adrenal hyperplasia
CHU de Dijon - Plateau technique de Biologie
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

BASSE-NORMANDIE
CAEN

Neonatal screening of congenital adrenal hyperplasia
CHU de Caen - Hôpital de la Côte de Nacre
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ALSACE
STRASBOURG

Neonatal screening of congenital adrenal hyperplasia
CHU de Strasbourg - Hôpital Civil
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

AQUITAINE
PESSAC

Neonatal screening of congenital adrenal hyperplasia
CHU de Bordeaux-GH Sud - Hôpital Haut-Lévêque
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Neonatal screening of congenital adrenal hyperplasia
Centre régional de dépistage néonatal
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

PAYS DE LA LOIRE
NANTES

Neonatal screening of congenital adrenal hyperplasia
CHU de Nantes - Hôpital femme-enfant-adolescent
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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
Objective(s) : Analyte / Enzyme assay

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
Azienda Ospedaliera Universitaria "Federico II"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

SICILIA
PALERMO

Molecular diagnosis of congenital adrenal hyperplasia (CYP21 gene)
Azienda Ospedaliera Ospedali Riuniti "Villa Sofia-Cervello" - Presidio Cervello
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

IRELAND

County Dublin
DUBLIN

Biochemical diagnosis of congenital adrenal hyperplasia
Mater Misericordiae Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Schleswig-Holstein
KIEL

Molecular diagnosis of congenital adrenal hyperplasia
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

ROMANIA

CLUJ
CLUJ

Biochemical diagnosis of congenital adrenal hyperplasia
Spitalul de Pediatrie Copii Cluj
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ROMANIA

CLUJ
CLUJ

Molecular and biochemical diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 11-betahydroxylase deficiency
U.M.F. Iuliu Hatieganu Cluj
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

EMILIA ROMAGNA
BOLOGNA

Molecular diagnosis of congenital adrenal hyperplasia (CYP21 gene)
Policlinico S. Orsola-Malpighi - Area S. Orsola
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : Sanger sequencing

GERMANY

Hessen
FRANKFURT AM MAIN

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
Praxis Dr. med. Ulrike Beudt
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

CZECH REPUBLIC

South Moravia
BRNO

Postnatal and prenatal molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
University hospital Brno
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

HUNGARY

Közép-Magyarország
BUDAPEST

Molecular diagnosis of congenital adrenal hyperplasia by allele-specific amplification (CYP21A2 gene)
Semmelweis University Hospital - 2nd Department of Paediatrics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
Ospedale Niguarda Ca' Granda
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Biochemical diagnosis of congenital adrenal hyperplasia
Ospedale dei Bambini ''Vittore Buzzi"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
HEIDELBERG

Newborn screening : Biochemical diagnosis of congenital adrenal hyperplasia
Dietmar-Hopp-Stoffwechselzentrum
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SWEDEN

Stockholms läns landsting
STOCKHOLM

SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular diagnosis of congenital adrenal hyperplasia (STAR gene)
Karolinska University Hospital - Clinical Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVENIA

SLOVENIA
LJUBLJANA

Molecular diagnosis of congenital adrenal hyperplasia (CYP21 gene)
University Medical Centre Ljubljana
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Adrenal Hyperplasia (11 beta Hydroxylase , Mutation analysis, PGD)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Congenital Lipoid Adrenal Hyperplasia (STAR, Mutation analysis)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Congenital Adrenal Hyperplasia (CYP21A2, Linkage analysis, PGD)
Shaare Zedek Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater Manchester
MANCHESTER

Biochemical diagnosis of Congenital Adrenal Hyperplasia
Central Manchester University Hospitals - Clinical Sciences Building (CSB3)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

LEBANON

Beyrouth
BEIRUT

Molecular diagnosis of congenital adrenal hyperplasia (complete CYP21A2 gene sequencing)
Université Saint-Joseph
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Molecular diagnosis of congenital adrenal hyperplasia. CYP17A1 gene
Vall d'Hebron Institut de Recerca VHIR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

Biochemical diagnosis of Congenital Adrenal Hyperplasia, due to 21-hydroxylase deficiency, classic form (Analyte: 17-hydroxyprogesterone)
Royal Group of Hospitals Belfast
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
BARCELONA

Molecular and biochemical diagnosis of Lipoid adrenal hyperplasia, congenital (STAR and CYP11A1 genes)
Vall d'Hebron Institut de Recerca VHIR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
BARCELONA

Biochemical diagnosis of adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency. CYP17A1 gene.
Vall d'Hebron Institut de Recerca VHIR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SLOVENIA

SLOVENIA
MARIBOR

Molecular diagnosis of congenital adrenal hyperplasia
Maribor general hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GREECE

ATTIKI
ATHENS

Molecular diagnosis of congenital lipoid adrenal hyperplasia (STAR gene sequencing)
"Aghia Sophia" Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GREECE

ATTIKI
ATHENS

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene: allele-specific PCR and sequencing)
"Aghia Sophia" Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : PCR based techniques

FINLAND

Finland
KUOPIO

Molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
University of Eastern Finland
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

CHAMPAGNE-ARDENNE
REIMS

Neonatal screening of congenital adrenal hyperplasia
CHU de Reims - American Memorial Hospital
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Molecular diagnosis of congenital adrenal hyperplasia (HSD3B2 gene: entire coding sequence)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of 46,XY disorders of sex development (CYP17A1 gene)
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
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Utrecht
BILTHOVEN

Newborn screening: Biochemical diagnosis of Congenital Adrenal Hyperplasia (Analyte: 17-Hydroxyprogesterone)
RIVM - Rijksinstituut voor Volksgezondheid en Milieu
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

EMILIA ROMAGNA
BOLOGNA

Molecular diagnosis of adrenal hyperplasia due to 11-beta-hydroxylase deficiency (CYP11B1 gene)
Policlinico S. Orsola-Malpighi - Area S. Orsola
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Austrian newborn screening program for inherited metabolic and endocrine disorders
Allgemeines Krankenhaus der Stadt Wien
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Comunidad Valenciana
PATERNA

Preimplantation genetic diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics

ITALY

PUGLIA
LECCE

Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
Presidio Ospedaliero "Vito Fazzi" - ASL LE
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Prenatal and postnatal molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene: nested PCR, RT-PCR, MLPA, SnaPshot, fragmentation and sequencing)
University Hospital Bratislava - Stare mesto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : PCR based techniques, MLPA based techniques

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Prenatal and postnatal molecular and biochemical diagnosis of congenital adrenal hyperplasia due to 11-beta hydroxylase deficiency (CYP11B1 gene: sequencing ; GC/MS analysis of steroid hormone metabolites)
University Hospital Bratislava - Stare mesto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Berlin
BERLIN

Molecular diagnosis of congenital adrenal hyperplasia (CYP11B1, CYP21A2, CYP17A1, HSD3B2 genes: sequencing))
ATG GenMed GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

CROATIA

CROATIA
ZAGREB

Molecular diagnosis of Congenital Adrenal Hyperplasia
Children's University Hospital Zagreb
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

BASILICATA
MATERA

Postnatal molecular diagnosis of congenital adrenal hyperplasia (CYP21A2 gene)
Presidio Ospedaliero "Madonna delle Grazie" - Azienda Sanitaria di Matera (ASM)
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : PCR based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (CYP11B1 gene)
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
Technical procedure(s) : Sanger sequencing

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2 gene)
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
Technical procedure(s) : Sanger sequencing, MLPA based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of congenital lipoid adrenal hyperplasia due to STAR deficency (STAR gene)
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
Technical procedure(s) : Sanger sequencing