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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Biochemical and molecular diagnosis of mucolipidosis type 2, 3, 4 (enzyme assay/ GNPTAB, MCOLN1 genes: sequencing)
Centogene AG
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 mucolipidosis type 2, 3, 4 (GNPTAB, MCOLN1 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

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of mucolipidosis type 2 and 3 (GNPTAB gene)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Mucolipidosis type 2 (GNPTAB gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of mucolipidosis type 2 , 3 and 4 (GNPTAB, GNPTG, MCOLN1 genes: sequencing)
CeGaT GmbH
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 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)

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular diagnosis of Mucolipidosis II and III Alpha/Beta (GNPTAB gene)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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

SPAIN

Cataluńa
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of mucolipidosis type II (GNPTAB gene / Mutation scanning (c.3505_3504delTC) and Sequence analysis entire coding region)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region

FRANCE

MIDI-PYRENEES
TOULOUSE

Accreditation
Biochemical and molecular diagnosis of mucolipidosis type 2 (GNPTAB gene)
CHU de Toulouse - Hôpital Purpan
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

Strathclyde
GLASGOW

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

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Biochemical diagnosis of Lysosomal Storage disorders (Analyte: Chitotriosidase)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ISRAEL

ISRAEL
JERUSALEM

Accreditation
Molecular and Biochemical diagnosis of Mucolipidosis II (GNPTAB, Aryl Sulfatase A Hexosaminidase analysis)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Mucolipidosis type 2 and 3 (Analyte: N-acetyl-beta-D-glucosaminidase)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Avon
BRISTOL

Accreditation
Biochemical diagnosis of Mucolipidosis type 2 (Analyte: multiple lysosomal hydrolases)
Bristol Royal Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Biochemical diagnosis of Mucolipidosis type 2 (Analyte: Multiple lysosomal hydrolases. Gene: GNPTAB)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Biochemical diagnosis of Mucolipidosis type 2 and 3 (Analyte: several plasma enzymes)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Ontario
LONDON

Accreditation
Molecular Diagnosis of Lysosomal Storage Disorder - NGS Panel (50 genes)
London Health Sciences Centre
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)

FRANCE

MIDI-PYRENEES
TOULOUSE

Accreditation
Diagnosis of metabolism disorders (Panel)
CHU de Toulouse - Hôpital Purpan
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

Biochemical diagnosis of mucolipidosis type 2
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of mucolipidosis (GNPTAB gene / 3503_3504delTC mutation, 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)

ITALY

LAZIO
ROMA

Biochemical diagnosis of mucolipidosis type 2 (fluorometric determination of arylsulfatase A and total hexosaminidase)
IRCCS Ospedale Pediatrico Bambino Gesů
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Hamburg
HAMBURG

Molecular diagnosis of mucolipidosis type 2 and 3 (GNPTAB gene)
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Molecular Diagnosis of Mucolipidosis type 2 and 3 (GNPTAB gene)
Universitair Ziekenhuis Brussel - UZBrussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of mucolipidosis type 2 (GNPTAB gene)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
PARIS

Biochemical diagnosis of mucolipidosis type 2 and 3 (enzyme assay)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

PORTUGAL

NORTE
PORTO

Molecular diagnosis of mucolipidosis types 2 and 3 (GNPTAB and GNPTG genes: 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

ITALY

FRIULI VENEZIA GIULIA
UDINE

Postnatal biochemical diagnosis of mucolipidosis type 2 and 3 (enzyme assay of GNPTAB gene)
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluńa
BARCELONA

Biochemical diagnosis of mucolipidosis type 2
Centro de Diagnóstico Biomédico - CDB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Bayern
MÜNCHEN

Biochemical diagnosis of mucolipidosis type 2
Labor für molekulare Genetik und metabolische Erkrankungen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

PORTUGAL

NORTE
PORTO

Biochemical and molecular diagnosis of mucolipidosis types 2 and 3 (GNPTAB and GNPTG genes)
CGMJM - Centro de Genética Médica Jacinto Magalhăes
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FINLAND

Finland
HELSINKI

Biochemical diagnosis of I-cell disease
Clinical Research Institute HUCH Ltd
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ROMANIA

CLUJ
CLUJ

Biochemical diagnosis of mucolipidosis type 2
U.M.F. Iuliu Hatieganu Cluj
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GREECE

ATTIKI
ATHENS

Biochemical diagnosis of mucolipidosis type 2 (multiple lysosomal enzymes assay)
Institute of Child Health
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BULGARIA

 South-West region
SOFIA

Biochemical diagnosis of mucolipidosis type 2 by enzyme assay
University hospital of Obstetrics and Gynecology
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

TOSCANA
FIRENZE

Biochemical diagnosis of mucolipidosis type 2 and 3
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LIGURIA
GENOVA

Biochemical and molecular diagnosis of mucolipidosis type 2 and 3 (GNPTAB, GNPTG genes)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Rheinland-Pfalz
MAINZ

Biochemical diagnosis of mucolipidosis type 2
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
HEIDELBERG

Biochemical diagnosis of mucolipidosis type 2 and 3 (enzyme activity assays)
Dietmar-Hopp-Stoffwechselzentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Niedersachsen
GÖTTINGEN

Biochemical diagnosis of mucolipidosis type 2 and 3
Universitätsmedizin Göttingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CZECH REPUBLIC

Capital City Prague
PRAHA

Biochemical diagnosis of Oligosaccharidoses (Analyte: Oligosaccharides)
Charles University - First faculty of medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Zuid-Holland
ROTTERDAM

Biochemical diagnosis of Mucolipidosis type 2 and 3 (Analyte: Several Lysosomal Hydrolases)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Limburg
MAASTRICHT

Biochemical marker for Lysosomal Storage Diseases (Analyte: Chitotriosidase)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluńa
BARCELONA

Biochemical diagnosis of mucolipidosis type 2
Hospital Universitari Vall d'Hebron - Area Materno Infantil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

POLAND

Warszawa
WARSAW

Biochemical diagnosis of mucolipidosis type 2 (serum lysosomal enzymes assays)
Instytut Psychiatrii i Neurologii
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Lothian
EDINBURGH

Biochemical diagnosis of Mucolipidosis type 2 (Analyte: multiple lysosomal hydrolases)
Royal Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Mucolipidosis type 2 (Analyte: multiple lysosomal hydrolases)
Great Ormond Street Hospital for Children, NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Mucolipidosis type 2 (Analyte: multiple lysosomal hydrolases)
Guy's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

Biochemical diagnosis of Mucolipidosis type 2 (Analyte: multiple lysosomal hydrolases)
Royal Group of Hospitals Belfast
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

MARCHE
ANCONA

Biochemical diagnosis of mucolipidosis (lysosomial enzymes assay in plasma)
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

FRANCE

LORRAINE
VANDOEUVRE-LČS-NANCY

Biochemical diagnostic of mucolipidosis type 2 (enzymatic assay)
CHU de Nancy - Hôpital de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of mucolipidosis type II (GNPTAB 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