Orphanet: Simple search
x

Search for a diagnostic test

* (*) mandatory field

32 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation
;

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Biochemical diagnosis of the disorders of Amino Acid Metabolism (Analyte: Amino Acids, qualitative and quantitative)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Aminoacidopathies (Analyte: Amino Acids and PUFA)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Diagnosis of Metabolic Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

GERMANY

Hessen
FRANKFURT AM MAIN

Accreditation
Diagnosis of Amino acid metabolism diseases (amino acids in plasma, serum, urine, liquor)
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Bayern
MARTINSRIED

Accreditation
Diagnosis of hereditary ataxia (NGS panel, 103 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of ataxia, spastic paraplegia and related neurodegenerative diseases (Panel)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of spinocerebellar ataxia (panel)
Asper Biogene
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of rare neurodegenerative diseases and movment disorder (NGS screening panel, 351 genes)
CeGaT GmbH
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)

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative and Qualitative amino acids)
The Sheffield Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative amino acids)
The Great North Children's Hospital, Royal Victoria Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Strathclyde
GLASGOW

Accreditation
Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative amino acids)
Royal Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Sachsen-Anhalt
MAGDEBURG

Accreditation
Diagnosis of Amino acid metabolism diseases
Universitätsklinikum Magdeburg A.ö.R
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Hamburg
HAMBURG

Accreditation
Diagnosis of Amino acid metabolism diseases (amino acid in urine/plasma/liquor)
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Biochemical diagnosis of Amino Acid Metabolism and Transport Defects (Analyte: Amino Acids in plasma (D- and L-Amino Acids), urine and CSF (D- and L-Amino Acids), quantitative)
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 Aminoacidopathies (by aminoacid analysator & tandem MS : serum, urine, CSF)
Provinciaal Centrum voor opsporing van Metabole Aandoeningen (PCMA) - Antwerpen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SWEDEN

Region Västa Götaland
GÖTEBORG

Accreditation
Biochemical diagnosis of amino acid metabolism diseases (amino acid in plasma/cerebrospinal fluid/urine)
Sahlgrenska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Ontario
HAMILTON

Accreditation
Biochemical Analysis of Amino Acids (UPLC plasma)
McMaster University Medical Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Biochemical diagnosis of Amino Acid Metabolism and Transport disorders (Analyte: Amino Acids, qualitative and quantitative)
Universitair Ziekenhuis Brussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of ataxia with dementia (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
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)

SPAIN

Madrid
TRES CANTOS

Diagnosis of ataxia (panel - 150 genes)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
TRES CANTOS

Diagnosis of autosomal recessive cerebellar ataxia (panel)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Niedersachsen
GÖTTINGEN

Diagnosis of Amino acid metabolism diseases (amino acid in urine/plasma/liquor)
Universitätsmedizin Göttingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Diagnosis of Amino acid metabolism diseases
Universitätsklinikum Düsseldorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative amino acids)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative amino acids)
St Thomas' Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Lothian
EDINBURGH

Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative amino acids)
Royal Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Québec
SHERBROOKE

Biochemical diagnosis of Amino acid metabolism diseases (free amino acid in urine/plasma/CSF by aminoacid analysator)
CIUSSS de l'Estrie - CHUS Fleurimont
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Québec
MONTRÉAL

Biochemical diagnosis of Amino acid metabolism diseases (Analyte: Amino Acids in plasma/urine/CSF by HPLC, quantitative)
Montreal Children's hospital - Hôpital de Montréal pour enfants
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
FREIBURG

Diagnosis of amino acid metabolism diseases (amino acid in urine/serum)
Zentrum für Kinder- und Jugendmedizin Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Alberta
EDMONTON

Biochemical Analysis of Amino Acids (urine and blood)
University of Alberta Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Ontario
TORONTO

Biochemical Analysis of Amino Acids - Quantitative (plasma, serum, CSF, urine)
The Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Diagnosis of disorders of amino acid and other organic acid metabolism
Cliniques Universitaires UCL Saint-Luc
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay