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FRANCE

NORMANDIE
CAEN

Accreditation
Prenatal diagnosis of neural tube defects by electrophoresis of cholinesterases
CHU de Caen - Hpital de la Cte de Nacre
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMNE

Accreditation
Prenatal diagnosis of neural tube defects by electrophoresis of cholinesterases on amniotic fluid
Laboratoire Cerba
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Prenatal diagnosis of neural tube defects by dosage of alpha-fetoprotein on amniotic liquid
Laboratoire de biologie mdicale GEN-BIO
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Thringen
JENA

Accreditation
Prenatal diagnosis of neural tube defects and other malformations by biochemical methods (AFP test)
Institut fr Humangenetik am Universittsklinikum Jena
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SWITZERLAND

Suisse Almanique
ZRICH

Accreditation
Prenatal diagnosis of neural tube defects by dosage of alpha-foetoprotein (immunodiffusion)
Genetica AG
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Molecular diagnosis of Neural tube defects (VANGL1, VANGL2 genes)
Universittsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of spina bifida (AFP and AChE : amniotic Fluid)
CHU Sart Tilman - Lige
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Wrttemberg
FREIBURG

Accreditation
Molecular diagnosis of isolated spina bifida (FUZ, VANGL1 genes)
Praxis fr Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MNCHEN

Accreditation
Molecular diagnosis of isolated spina bifida (VANGL1 gene)
Prnatalmedizin Mnchen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

GRAND-EST
STRASBOURG

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

SPAIN

Catalua
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of neural tube defect and related disorders (panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Methylenetetrahydrofolate Dehydrogenase 1 Deficiency (MTHFD1 gene)
VUmc - VU medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Prenatal diagnosis of neural tube defects by dosage of alpha-fetoprotein and electrophoresis of cholinesterases on amniotic liquid
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

HAUTS-DE-FRANCE
LILLE

Prenatal diagnosis of neural tube defects by electrophoresis of cholinesterases
CHRU de Lille - Centre de Biologie Pathologie Gntique
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

PAYS DE LA LOIRE
ANGERS

Prenatal diagnosis of neural tube defects by electrophoresis of cholinesterases and enzyme assay in amniotic fluid
CHU d'Angers
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

OCCITANIE
TOULOUSE

Prenatal diagnosis of neural tube defects by electrophoresis of cholinesterases
Clinique St Jean Languedoc
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

POLAND

Warszawa
WARSAW

Molecular diagnosis of neural tube defects (MTHFR gene: search for mutations 677C>T and 1298A>C)
NZOZ GENOMED
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of neural tube defects (MTHFR, NOTCH3, VANGL1, and VANGL2 genes)
Praxis fr Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

POLAND

Warszawa
WARSAW

Molecular diagnosis of neural tube defects (MTHFR gene: search for mutations 677C>T and 1298A>C)
MEDGEN
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of susceptibility to myelomeningocele (VANGL1 gene)
IMEGEN - Instituto de Medicina Genmica
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics

GERMANY

Niedersachsen
OSNABRCK

Molecular diagnosis of isolated spina bifida (VANGL1 gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

NOUVELLE AQUITAINE
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
Technique(s) : NGS sequencing (except WES)

FRANCE

BRETAGNE
BREST

Diagnosis of intellectual disability (Panel)
CHU de Brest - Hpital de la Cavale Blanche
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)

AUSTRIA

WIEN
WIEN

Molecular diagnosis of neural tube defects (VANGL1 and VANGL2 genes)
Medizinische Universitt Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

PAYS DE LA LOIRE
NANTES

Prenatal diagnosis of neural tube defects by dosage of alpha-fetoprotein on amniotic liquid
CHU de Nantes - Hpital mre-enfant
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

PAYS DE LA LOIRE
LE MANS

Prenatal diagnosis of neural tube defects by electrophoresis of cholinesterases
Centre Hospitalier Le Mans
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

OUTRE-MER
SAINT-DENIS

Prenatal diagnosis of neural tube defects by electrophoresis of cholinesterases
CHU de la Runion - Hpital Flix Guyon
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

NORMANDIE
ROUEN

Prenatal diagnosis of neural tube defects by electrophoresis of cholinesterases on amniotic liquid
CHU de Rouen - Hpital Charles Nicolle
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SWITZERLAND

Suisse Romande
GENVE

Diagnostic biochimique par l'alpha-fetoproteine
Hpitaux Universitaires de Genve - Maternit
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Hessen
GIEEN

Prenatal diagnosis of neural tube defects by dosage of alpha-fetoprotein and electrophoresis of cholinesterases on amniotic liquid
Humangenetische Praxis Dr. Schmidt & Mautner
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BULGARIA

South-West region
SOFIA

Prenatal biochemical screening of neural tube defects
University hospital of Obstetrics and Gynecology
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LIGURIA
GENOVA

Molecular diagnosis of neural tube defects (VANGL1, VANGL2 genes)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LIGURIA
GENOVA

Polymorphisms analysis in folate metabolism genes (MTHFR, MTHFD1 genes) for the neural tube defects prevention and risk estimation
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
DSSELDORF

Array-CGH in case of unexplained developmental delay
Praenatal-Medizin und Genetik, Dsseldorf
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

FRANCE

GRAND-EST
VANDOEUVRE-LS-NANCY

Molecular diagnosis of susceptibility to cervical spina bifida aperta (MTHFD1 gene; NGS)
CHU de Nancy - Hpitaux de Brabois
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing