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GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of familial hypercholesterolemia (APOB, LDLRAP1, LDLR, PCSK9 genes: sequencing, MLPA)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of familial defective apolipoprotein B-100
Labor Lademannbogen
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 familial apolipoprotein B deficiency (APOB gene)
Zweigniederlassung der synlab MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
MÖNCHENGLADBACH

Accreditation
Molecular diagnosis of familial defective apolipoprotein B-100 (APOB gene)
Medizinische Versorgungszentrum Dr.Stein + Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Molecular diagnosis of familial hypercholesterolemia (LDLR and APOB genes)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

LIEGE
LIEGE

Accreditation
Molecular diagnosis of familial hypercholesterolemia (LDLR and APOB genes)
CHU de LIEGE - UniLab Lg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular diagnosis of familial hypercholesterolemia (LDLR, LDLRAP1, PCSK9 genes)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular diagnosis of familial defective apolipoprotein B-100 (APOB gene: exon 26)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of familial hypercholesterolemia (LDLRAP1 and LDLR genes)
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

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Familial Hypercholesterolaemia (LDLR, PCSK9, APOB, LDLRAP genes: Next Generation Sequencing of the entire coding region of gene (s) plus copy number analysis / testing for known mutations in family members)
Great Ormond Street Hospital for Children, York House
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Sachsen
WEIßWASSER

Accreditation
Molecular diagnosis of familial hypercholesterolemia (LDLRAP1, LDLR, PCSK9 genes)
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

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

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of familial hypercholesterolemia (APOB, LDLRAP1, LDLR, PCSK9 genes: sequencing)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of familial defective apolipoprotein B-100
Bioscientia Institut für Medizinische Diagnostik 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 familial defective apolipoprotein B-100
Medizinisch Genetisches Zentrum München
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), Sanger sequencing, Whole Exome Sequencing (WES)

GERMANY

Nordrhein-Westfalen
KÖLN

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

SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation
Molecular diagnosis of familial defective apolipoprotein B (APOB gene)
Institut für Medizinische & Molekulare Diagnostik AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of familial hypercholesterolemia (LDLR and APOB genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

ESTONIA

Tartu
TARTU

Accreditation
Molecular screening of frequent diseases in Ashkenazi Jewish populations (APEX: ABCC8, AGL, ASPA, BCKDHB, BLM, CFTR, CLRN1, DLD, F11, FANCC, G6PC, GBA, GJB2, HEXA, IKBKAP, LDLR, MCOLN1, MEFV, NEB, PCDH15, SERPINA1, SMPD1, TMEM216 and TOR1A genes)
Asper Biotech Ltd.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : PCR based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of familial hypercholesterolemia (LDLR gene)
Zweigniederlassung der synlab MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FINLAND

Finland
HELSINKI

Accreditation
Molecular diagnosis of familial hypercholesterolemia (LDLR gene: seven typical mutations in the Finnish population)
Yhtyneet Medix Laboratoriot
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of familial hypercholesterolemia (APOB, APOE, LDLR, LDLRAP1, PCSK9 genes)
Zentrum für Humangenetik Mannheim
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 familial hypercholesterolemia (LDLR gene: sequencing/ MLPA; APOB gene: R3500Q, R3500W & R3531C)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of familial hypercholesterolemia (APOB, LDLR, LDLRAP1, PCSK9 genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

Grampian
ABERDEEN

Accreditation
Molecular diagnosis of autosomal dominant Familial Hypercholesterolemia (type B) (LDLR gene)
Aberdeen Royal Infirmary, Polwarth Building
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Avon
BRISTOL

Accreditation
Molecular diagnosis of Familial Hypercholesterolaemia (LDLR full screen plus APOB and PCSK9 common mutations)
Southmead Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of Familial hypercholesterolemia (LDLR, APOB and PCSK9 genes)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of familial hypercholesterolemia (LDLR and APOB genes: sequencing / MLPA)
amedes genetics im MVZ für Labormedizin und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

NETHERLANDS

Groningen
GRONINGEN

Accreditation
Molecular diagnosis of Familial Hypercholesterolemia (LDLR, APOB and PCSK9 gene)
UMCG - Universitair Medisch Centrum Groningen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

South Yorkshire
SHEFFIELD

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of familial hypercholesterolemia (APOB, LDLRAP1, LDLR, PCSK9 genes)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
Molecular diagnosis of Familial Hypercholesterolaemia (FH, LDLR, APOB & PCSK9 genes: Molecular diagnosis through sequencing analysis)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Grampian
ABERDEEN

Accreditation
Molecular diagnosis of Familial Hypercholesterolaemia - FH (Genes: LDLR, APOB & PCSK9)
Aberdeen Royal Infirmary, Polwarth Building
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of familial hypercholesterolemia (APOB, LDLR, PCSK9 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

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of familial hypercholesterolemia (APOB, LDLR, PCSK9 genes)
Zweigniederlassung der synlab MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

CANADA

Manitoba
WINNIPEG

Accreditation
Molecular Diagnosis of Hyperlipoproteinemia type III/Familial Hypercholesterolemia (ApoE targeted mutation analysis)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of heterozygous familial hypercholesterolemia (LDLR gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Berlin
BERLIN

Accreditation
Molecular diagnosis of familial hypercholesterolemia (APOB, LDLR, PCSK9 genes)
Charité - Universitätsmedizin Berlin (CVK)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Niedersachsen
HANNOVER

Accreditation
Molecular diagnosis of familial hypercholesterolemia (LDLR and APOB genes)
amedes genetics im MVZ wagnerstibbe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation
Molecular diagnosis of familial hypercholesterolemia (APOB, LDLRAP1, LDLR, PCSK9 genes)
Labor PD Dr. Volkmann und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of familial hypercholesterolemia (LDLR gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

GERMANY

Niedersachsen
HANNOVER

Accreditation
Molecular diagnosis of familial hypercholesterolemia (APOB, LDLR, PCSK9 genes)
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
SINGEN /HTWL.

Accreditation
Molecular diagnosis of familial defective apolipoprotein B-100
Institut für Laboratoriumsmedizin und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
SINGEN /HTWL.

Accreditation
Molecular diagnosis of familial hypercholesterolemia (LDLRAP1 and LDLR genes)
Institut für Laboratoriumsmedizin und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
BAD OEYNHAUSEN

Accreditation
Molecular diagnosis of familial apolipoprotein B deficiency
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

Accreditation
Molecular diagnosis of Familial Hypercholesterolaemia and FDB (APOB gene: R3500Q)
Belfast City Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

Capital City Prague
PRAHA

Accreditation
Molecular diagnosis of familial defective apolipoprotein B-100 (APOB gene)
First Faculty of Medicine and General Teaching Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
BAD STEBEN

Accreditation
Molecular diagnosis of familial defective apolipoprotein B-100
Institut für angewandte Humangenetik und Onkogenetik
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 hypercholesterolemia (APOB genes)
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

CZECH REPUBLIC

South Moravia
HODONIN

Accreditation
Molecular diagnosis of familial hypercholesterolemia (APOB gene)
Chemila, spol. s r.o.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of familial hypercholesterolemia - FH (LDLR, APOB and PCSK9 genes: mutation analysis)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of familial hypercholesterolemia - FH (LDLR, APOB and PCSK9 genes: mutation analysis)
The Doctors Laboratory Ltd
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
BAD OEYNHAUSEN

Accreditation
Molecular diagnosis of familial hypercholesterolemia (APOB, LDLR, LDLRAP1 genes: sequencing, MLPA)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

FINLAND

Finland
HELSINKI

Accreditation
Molecular diagnosis of hyperlipidemias (ABCG5, ABCG8, APOB, APOC2, APOC3, APOE, LDLR, LDLRAP1, LPL, PCSK9 genes) Next-generation sequencing
Blueprint Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

Accreditation
Molecular diagnosis of Familial Hypercholesterolemia by sequencing of the entire coding region of gene (s) / copy number analysis (LDLR gene) / Targeted mutation analysis (APOB, LDLR, PCSK9 genes)
Belfast City Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region

FRANCE

ILE-DE-FRANCE
BOULOGNE-BILLANCOURT

Molecular diagnosis of familial hypercholesterolemia (LDLR, PCSK9 and APOB genes)
CHU Paris IdF Ouest - Hôpital Ambroise Paré
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, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of familial hypercholesterolemia (LDLR, APOB, LDLRAP1, PCSK9 and APOE genes; NGS)
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of familial hypercholesterolemia (LDLR, APOB, LDLRAP1, PCSK9 genes)
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

RHONE-ALPES
BRON

Molecular diagnosis of familial hypercholesterolemia (APOB, LDLR and PCSK9 genes: exons and exon-intron junctions)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of familial hypercholesterolemia (LDLR, APOB and PCSK9 genes)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

SUL
LISBOA

Molecular diagnosis of familial hypercholesterolemia (LDLR gene)
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of familial hypercholesterolemia (LDLR, APOB, PCSK9 and LDLRAP1 genes: Analysis of the entire coding region, sequence analysis and targeted mutation analysis - panel of mutations Arg3500Gln, Arg3500Trp, and Arg3531Cys, and deletion/duplication analysis by MLPA for LSLR gene)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), MLPA based techniques

ITALY

PIEMONTE
TORINO

Molecular diagnosis of familial hypercholesterolemia
A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Molecular diagnosis of hypercholesterolemia, familial (APOB gene)
CHUS - Complejo Hospitalario Universitario de Santiago
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Preimplantation genetic diagnosis of the familial hypercholesterolaemia. LDLR gene
Reprogenetics Spain S.A.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Alémanique
REINACH

Molecular diagnosis of Familial defective apolipoprotein B-100 (APOB gene)
Diagene Laboratories Inc.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Alémanique
REINACH

Molecular diagnosis of Familial Hypercholesterolemia (Sequencing of LDLR gene)
Diagene Laboratories Inc.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Hessen
FRANKFURT AM MAIN

Molecular diagnosis of familial hypercholesterolemia (APOB and LDLR genes)
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

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

Andalucía
MÁLAGA

Molecular diagnosis of familial defective apolipoprotein B-100. Amplification and sequencing of ApoB gene exon 26.
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

SPAIN

Comunidad Valenciana
PATERNA

'Molecular diagnosis of familial hypercholesterolemia (complete sequencing of genes APOB, LDLR, LDLRAP1; 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)

GERMANY

Baden-Württemberg
HEIDELBERG

Molecular diagnosis of familial defective apolipoprotein B-100 (APOB gene: codon 3500)
Molekulargenetisches Labor der Gemeinschaftspraxis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES), PCR based techniques

GERMANY

Baden-Württemberg
HEIDELBERG

Molecular diagnosis of familial hypercholesterolemia (LDLR gene: sequencing)
Molekulargenetisches Labor der Gemeinschaftspraxis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

POLAND

Poznan
POZNAN

Molecular diagnosis of familial hypercholesterolemia (APOB and LDLR gene mutations)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Warszawa
WARSAW

Molecular diagnosis of familial hypercholesterolemia (LDLR and APOB genes: mutation analysis)
NZOZ GENOMED
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of autosomal dominant hypercholesterolemia (LDLR, APOB, APOE and PCSK9 gene)
CHU Paris Est - Hôpital Saint-Antoine
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

SPAIN

Andalucía
ARMILLA

Molecular diagnosis of familial hypercholesterolemia (entire coding sequence of LDLR gene; APOB gene / Arg3500Gln, Arg3531Cys and Arg3480Trp mutations)
Lorgen G.P.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of familial hypercholesterolemia (LDLR gene)
Praxis Dres. Gencik
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 hypercholesterolemia (APOB, LDLR, LDLRAP1, PCSK9 genes)
Hospital de la Santa Creu i Sant Pau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
ULM

Molecular diagnosis of familial hypercholesterolemia (LDLR gene)
MVZ Humangenetik Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

SPAIN

Galicia
A CORUÑA

Molecular diagnosis of familial hypercholesterolemia (APOB, LDLR genes)
Health In Code
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of familial hypercholesterolemia (APOB gene: hotspot, LDLR gene: sequencing/MLPA, LDLRAP1, PCSK9 genes: sequencing)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

CANADA

Québec
MONTRÉAL

Molecular diagnosis of familial hypercholesterolemia (LDLR gene / mutations W66G, E207K, R329X, C152W, 681+ins7, C347R, Y354C, Y468X, C646Y & deletions)
Centre hospitalier universitaire Sainte-Justine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

AUSTRIA

WIEN
WIEN

Molecular diagnosis of familial hypercholesterolemia (LDLR and APOB genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

La Rioja
LOGROÑO

Molecular diagnosis of familial hypercholesterolemia (APOB, LDLR genes)
CIBIR - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Warszawa
WARSAW

Molecular diagnosis of familial hypercholesterolemia (LDLR and APOB genes: mutation analysis)
MEDGEN
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of familial hypercholesterolemia (LDLR, APOB, LDLRAP1, PCSK9 genes)
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of familial hypercholesterolemia (LDLR gene / sequencing; APOB gene / codon 3500, 3531, 3480)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of dyslipidemia (LDLR, LCAT, APOA1 genes)
Sapienza Università di Roma - Facoltà di Medicina e Chirurgia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Molecular diagnosis of familial hypercholesterolemia (APOB, LDLR, LDLRAP1, PCSK9 genes)
Centro de Diagnóstico Biomédico - CDB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
MADRID

Molecular diagnosis of heterozygous familial hypercholesterolemia (LDLR, PCSK9, APOB genes / NGS)
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
BOULOGNE-BILLANCOURT

Diagnosis of familial hypercholesterolemia (Panel)
CHU Paris IdF Ouest - Hôpital Ambroise Paré
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

NORD-PAS-DE-CALAIS
LILLE

Diagnosis of familial hypercholesterolemia (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, Sequence analysis: entire coding region, Uniparental disomy study, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

FRANCE

RHONE-ALPES
BRON

Diagnosis of hyperlipidemia (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)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of familial hypercholesterolemia (APOB, LDLR, LDLRAP1, PCSK9 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

PICARDIE
AMIENS

Molecular diagnosis of familial defective apolipoprotein B-100 (APOB gene)
CHU Amiens-Picardie - Site Sud
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : PCR based techniques

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of familial hypercholesterolemia (LDLR and APOB genes)
Azienda Ospedaliera "San Paolo" - Università degli Studi di Milano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

SALZBURG
SALZBURG

Molecular diagnosis of familial defective apolipoprotein B-100
Salzburger Landeskliniken (SALK) / Paracelsus Med. Privatuniversität (PMU)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Other

AUSTRIA

STEIERMARK
GRAZ

Molecular diagnosis of familial hypercholesterolemia
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Other

NETHERLANDS

Noord-Holland
AMSTERDAM

Molecular diagnosis of Autosomal Dominant Hypercholesterolemia (LDLR, APOB and PCSK9 gene)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

South Moravia
BRNO

Postnatal and prenatal molecular diagnosis of familial defective apolipoprotein B-100 (APOB gene)
University hospital Brno
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

South Moravia
BRNO

Postnatal and prenatal molecular diagnosis of familial hypercholesterolemia (LDLR gene)
University hospital Brno
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Familial Hypercholesterolaemia (LDLR & PCSK9 genes)
UCL University College London, Bloomsbury Campus - Rayne Building
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of Familial Defective Apolipoprotein B-100 (APOB gene)
UCL University College London, Bloomsbury Campus - Rayne Building
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

Capital City Prague
PRAHA

Prenatal and postnatal molecular diagnosis of familial hypercholesterolemia (LDLR and APOB genes)
Genomac International s.r.o.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

Moravia-Silesia
OSTRAVA

Molecular diagnosis of familial defective apolipoprotein B-100 (APOB gene)
CGB laboratory Ltd.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of familial defective apolipoprotein B-100 (APOB gene)
Faculty hospital Kralovske Vinohrady
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
VALENCIA

Molecular diagnosis of familial hypercholesterolemia (LDLR, PCSK9, LDLRAP1 and APOB genes)
INCLIVA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

IRELAND

County Dublin
DUBLIN

Genetic diagnosis of Familial Hypercholesterolaemia (LDLR gene)
St James's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

LEBANON

Beyrouth
BEIRUT

Molecular diagnosis of familial hypercholesterolemia (lebanese mutation of LDLR gene)
Université Saint-Joseph
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

TURKEY

TURKEY
SÝVAS

Molecular diagnosis of familial hypercholesterolemia
Cumhuriyet Üniversitesi Týp Fakültesi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CROATIA

CROATIA
ZAGREB

Molecular diagnosis of Familial Defective Apolipoprotein B-100 (APOB gene)
Zagreb Clinical Hospital Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Warszawa
WARSAW

Molecular diagnosis of familial defective apo B-100
Instytut Psychiatrii i Neurologii
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Gdansk
GDANSK

Molecular diagnosis of familial hypercholesterolaemia (LDLR and APOE genes)
Uniwersyteckie Centrum Kliniczne
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GREECE

IRAKLIO
HERAKLION

Molecular diagnosis of familial hypercholesterolemia (LDLR full gene screening)
DNA analysis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GREECE

IRAKLIO
HERAKLION

Molecular diagnosis of familial defective apolipoprotein B-100
DNA analysis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FINLAND

Finland
KUOPIO

Molecular diagnosis of familial hypercholesterolemia (LDLR, LDLRAP1, APOB, APOE, PCSK9, ABCG5, ABCG8, APOC2 and APOC3 genes)
University of Eastern Finland
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ROMANIA

BUCURESTI
BUCURESTI

Postnatal molecular diagnosis of familial hypercholesterolemia (LDLR gene:deletion/duplication analysis by MLPA; mutation screening and sequencing of the entire coding region)
National institute of legal medicine
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, Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

CZECH REPUBLIC

Olomouc
OLOMOUC

Molecular diagnosis of familial hypercholesterolemia (APOB gene)
University hospital Olomouc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

South Bohemia
CESKE BUDEJOVICE

Molecular diagnosis of familial hypercholesterolemia (APOB gene)
Hospital Ceské Budejovice
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

Liberec
LIBEREC

Molecular diagnosis of familial hypercholesterolemia (APOB gene)
Regional Hospital Liberec, Krajska nemocnice Liberec
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Noord-Holland
AMSTERDAM

Molecular diagnosis of Autosomal Recessive Hypercholesterolemia (LDLRAP1 gene)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of dyslipidemia (LDLR, LCAT, APOA1 genes)
Ospedale Niguarda Ca' Granda
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
MAJADAHONDA

Molecular diagnosis of familial hypercholesterolemia (sequencing of APOB, LSLR and PCSK9 genes)
Genyca Innova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of familial hypercholesterolemia (searching for R3500Q mutation of APOB gene)
University Hospital Bratislava - Stare mesto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of familial hypercholesterolemia (genes LDLR - direct sequencing, APOB - direct sequencing and MLPA, PCSK9 - real time PCR genotyping, mutR3500Q)
Slovak Academy of Sciences
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : PCR based techniques, MLPA based techniques

ITALY

VENETO
VERONA

Molecular diagnosis of familial hypercholesterolemia (sequence analysis of the entire coding region and MLPA of LDLR gene; targeted regions sequencing of APOB gene)
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Trento
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : MLPA based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of familial hypercholesterolemia (APOB, CYP7A1, LDLR, 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, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques