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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 gene)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Phosphoribosyl Pyrophosphate Synthetase 1 Superactivity (PRPS1 gene)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis in case of Unexplained Metabolic Disorders (exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of X-linked Intellectual Deficit due to X-chromosome Inactivation (RFLP and methylation analysis of x-chromosome)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Methylation analysis

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 gene)
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

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 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

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 gene)
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

GERMANY

Bayern
MÜNCHEN

Accreditation
Heterozygote screening by NGS Inherited Disease Panel (Kingsmore)
Pränatalmedizin München
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

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 gene: sequencing)
CeGaT GmbH
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 Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 gene)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Screen of Purines and Pyrimidines in urine
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Accreditation
Biochemical diagnosis of Phosphoribosylpyrophosphate (PRPP) Synthetase Superactivity (Analyte: Phosphoribosylpyrophosphate synthetase -PRPS1)
St Thomas' Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Accreditation
Biochemical diagnosis of Purine disorders (Analyte: Purines/metabolites)
St Thomas' Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Accreditation
Biochemical diagnosis of Purine and Pyrimidine disorders (Analyte: Purines/Pyrimidines)
St Thomas' Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Hamburg
HAMBURG

Accreditation
Biochemical diagnosis of purine/pyrimidine disorders (purines/pyrimidines in urine and plasma)
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Phosphoribosylpyrophosphate Synthetase Superactivity (Phosphoribosylpyrophosphate Synthetase activity)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Purine Metabolism Disorders (Analyte: Purines)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Biochemical diagnosis of Purine and Pyrimidine Metabolism Defects (Analyte: Purine and Pyrimidine metabolites in urine)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

ANTWERPEN
ANTWERPEN

Accreditation
Biochemical diagnosis of Purine and pyrimidine metabolism disorders (purines and pyrimidines: HPLC, urine)
Provinciaal Centrum voor opsporing van Metabole Aandoeningen (PCMA) - Antwerpen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Madrid
CANTOBLANCO

Biochemical diagnosis of purine metabolism disorders
Universidad Autónoma de Madrid. Facultad de Ciencias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Québec
SHERBROOKE

Biochemical diagnosis of purine/pyrimidine disorders (purines/pyrimidines in urine by LC/UV)
CHU Sherbrooke - Hôpital Fleurimont
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 gene: sequencing)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FRANCE

ALSACE
STRASBOURG

Diagnosis of intellectual disability (Panel)
CHU de Strasbourg - Hôpital Civil
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 intellectual disability (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

POITOU-CHARENTES
POITIERS

Diagnosis of intellectual disability (Panel ID275)
CHU de Poitiers
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)

ITALY

LIGURIA
GENOVA

Biochemical diagnosis of purine metabolism diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

TOSCANA
FIRENZE

Biochemical diagnosis of phosphoribosylpyrophosphate synthetase superactivity
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

SICILIA
CATANIA

Molecular and biochemical diagnosis of phosphoribosyl-pyrophosphate-synthetase anomalies (PRPS1)
Università degli Studi di Catania
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
HEIDELBERG

Biochemical diagnosis of Phosphoribosylpyrophosphate synthetase superactivity (purines and pyrimidines in urine)
Dietmar-Hopp-Stoffwechselzentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

VENETO
PADOVA

Biochemical diagnosis of phosphoribosylpyrophosphate synthetase superactivity
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

VENETO
PADOVA

Personalised preimplantation genetic diagnosis: microsatellite analysis on the first polar globule
Policlinico Universitario di Padova
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Niedersachsen
HANNOVER

Biochemical diagnosis of purine/pyrimidine disorders (purines/pyrimidines in urine)
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

MARCHE
ANCONA

Biochemical diagnosis of purine or pyrimidine metabolism disorder (urinary pyrimidine and purine assay)
Ospedali Riuniti "Umberto I - G.M. Lancisi - G. Salesi" - Presidio "G. Salesi"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Biochemical diagnosis of purine and pyrimidine metabolism defects (analyte: purine and pyrimidine metabolites in urine)
University Hospital Bratislava - Stare mesto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Hessen
FRANKFURT AM MAIN

Biochemical diagnosis of purine/pyrimidine disorders (purines/pyrimidines in urine)
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Diagnosis of intellectual disability (Panel)
CHRU de Lille - Centre de Biologie Pathologie Génétique
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)