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Caption : Accreditation =Accreditation
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GERMANY

Sachsen
WEIßWASSER

Accreditation
Molecular diagnosis of familial defective apolipoprotein B-100 (APOB gene: fragment analysis and sequencing)
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

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of familial defective apolipoprotein B-100 (APOB gene)
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
LEIPZIG

Accreditation
Molecular diagnosis of familial defective apolipoprotein B-100 (APOB gene)
MVZ Labor Dr. Reising-Ackermann und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

PORTUGAL

NORTE
PORTO

Accreditation
Molecular diagnosis of dominant ataxias (NGS panel for ADCK3, AFG3L2, ANO10, APTX, ATM, MRE11A, MTPAP, MTTP, PIK3R5, POLG, SACS, SETX, SIL1, SPTBN2, SYNE1, SYT14, TDP1, TTPA, ZNF592 genes: Sequencing 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
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of familial hypobetalipoproteinemia (ANGPTL3, APOB, MTTP 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

Baden-Württemberg
HEIDELBERG

Accreditation
Molecular diagnosis of familial defective apolipoprotein B-100 (APOB 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

FRANCE

RHONE-ALPES
BRON

Molecular and biochemical diagnosis of familial hypobetalipoproteinemia (APOB, ANGPTL3, PCSK9 genes: exons and exon-intron junction sequencing ; ApoB electrophoresis)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Protein expression
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Western Blot

GERMANY

Hessen
FRANKFURT AM MAIN

Molecular diagnosis of familial defective apolipoprotein B-100 (APOB gene)
bio.logis Zentrum für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Cataluña
BARCELONA

Molecular diagnosis of familial hypobetalipoproteinemia (ANGPTL3, APOB, APOC3, MYLIP, NPC1L1, PCSK9 genes)
Hospital de la Santa Creu i Sant Pau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of benign familial hypobetalipoproteinemia (APOB gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of susceptibility to cardiovascular disease (PCSK9 gene: rs11206510, rs11591147)
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Familial hypobetalipoproteinemia (APOB 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 familial hypobetalipoproteinemia (complete sequencing of genes APOB and PCSK9; APOB gene / detection of the mutations p.Arg3500Gln, p.Arg3500Trp and p.Arg3531Cys by sequencing)'
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)

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Diagnosis of familial hypobetalipoproteinemia (MTTP, APOB, PCSK9, ANGPTL3 genes)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Uniparental disomy study, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Diagnosis of familial hypobetalipoproteinemia (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)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of familial hypobetalipoproteinemia (APOB, PCSK9 genes)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

CZECH REPUBLIC

Plzen
PLZEN - BORY

Molecular diagnosis of familial hypobetalipoproteinemia (APOB gene)
Pilsen University Hospital, Fakultni nemocnice Plzen - areal Bory
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Noord-Holland
AMSTERDAM

Molecular diagnosis of Hypo-betalipoproteinemia (APOB gene)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
VALENCIA

Molecular diagnosis of familial hypobetalipoproteinemia (ANGPTL3, APOB, MTTP and PCSK9 genes)
INCLIVA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of familial hypobetalipoproteinemia (ANGPTL3, APOB, MTTP, PCSK9 genes)
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