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128 Result(s)
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: Accreditation
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PAYS DE LA LOIRE
NANTES
Diagnosis of long QT syndrome (panel)
CHU de Nantes - Institut de Biologie
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Bayern
MARTINSRIED/PLANEGG
Diagnosis of long QT syndrome (NGS screening panel, 16 genes)
MVZ Martinsried GmbH
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of long QT syndrome (Panel)
CHU de Lyon HCL - GH Est
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques

Limburg
MAASTRICHT
Molecular diagnosis of Long QT Syndrome type 2, 3, 5, 6 and 9 (KCNH2, SCN5A, KCNE1, KCNE2 and CAV3 gene)
Maastricht UMC+
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Noord-Holland
AMSTERDAM
Diagnosis of Familial Long QT Syndrome type 1, 2, 3, 5, 6, 7, 8, 9, 13 and 15 (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CACNA1C, CAV3, KCNJ5 and CALM2 gene)
Amsterdam UMC, locatie AMC
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing, MLPA based techniques

Oxfordshire
OXFORD
Molecular diagnosis of Familial long QT syndrome (KCNQ1, KCNH2, KCNE1, KCNE2, SCN5A genes: mutation screening by sequencing and dosage analysis by MLPA)
Churchill Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: MLPA based techniques

Sachsen
DRESDEN
Diagnosis of long QT syndrome (NGS screening panel, 24 Gene)
MVZ Mitteldeutscher Praxisverbund Humangenetik 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), Sanger sequencing, MLPA based techniques

Mecklenburg-Vorpommern
ROSTOCK
Diagnosis of Long QT syndrome type 3 (SCN5A gene)
Diagenom GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

VLAAMS BRABANT
LEUVEN
Diagnosis of hereditary cardiopathies (gene panel)
UZ Leuven - Campus Gasthuisberg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Nordrhein-Westfalen
MÜNSTER
Diagnosis of long QT syndrome type 1-15 (ANK2, AKAP9, CACNA1C, CALM1, CALM2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRDN genes)
Universitätsklinikum Münster
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Nordrhein-Westfalen
MÜNSTER
Diagnosis of genetic heart diseases (NGS screening panel: 174 genes)
Universitätsklinikum Münster
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of Inherited Cardiac Arrhythmias - Long QT syndrome types
Universitair Ziekenhuis Brussel
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Limburg
MAASTRICHT
Molecular diagnosis of Long QT Syndrome type 1 (KCNQ1 gene)
Maastricht UMC+
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Suisse Romande
LAUSANNE
Molecular diagnosis of long QT syndrome (KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 genes)
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Suisse Romande
GENÈVE
Diagnosis of arythmia (panel)
Hôpitaux Universitaires de Genève HUG
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Whole Exome Sequencing (WES)

Baden-Württemberg
MANNHEIM
Diagnosis of long QT syndrome type 1-3, 5, 6, 7 and 8 (CACNA1C, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN5A genes)
Zentrum für Humangenetik Mannheim
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Asturias
OVIEDO
Diagnosis of Romano-Ward syndrome (KCNQ1, KCNH2 genes)
Hospital Universitario Central de Asturias
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Niedersachsen
HANNOVER
Diagnosis of long QT syndrome (KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A genes)
Medizinische Hochschule Hannover
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Rheinland-Pfalz
INGELHEIM AM RHEIN
Diagnosis of long QT syndrome type 1-3, 5, 6, 8-10 (CACNA1C, CAV3, KCNQ1, KCNE1, KCNE2, KCNH2, SCN5A, SCN4B genes)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Nordrhein-Westfalen
BAD OEYNHAUSEN
Diagnosis of long QT syndrome (ANK2, AKAP9, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, SCN4B, SCN5A, SNTA1, TRDN genes)
Ruhr-Universität Bochum
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), Sanger sequencing, MLPA based techniques

Baden-Württemberg
FREIBURG
Diagnosis of long QT syndrome type 2-4, 7, 10-12 (AKAP9, ANK2, KCNH2, KCNJ2, SCN4B, SCN5A, SNTA1 genes)
SYNLAB MVZ Freiburg GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
MÜNCHEN
Diagnosis of long QT syndrome type 1, 2, 3, 5 and 6 (KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A genes)
Zweigniederlassung der SYNLAB MVZ Augsburg 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)

Hamburg
HAMBURG
Diagnosis of long QT syndrome type 1-12 (ANK2, AKAP9, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN4B, SCN5A, SNTA1 genes)
MVZ Fenner & Krasemann
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
TÜBINGEN
Diagnosis of long QT syndrome (KCNE1, KCNJ5 genes: sequencing)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
KARLSRUHE
Diagnosis of long QT syndrome (KCNQ1, KCNH2, KCNE1,KCNE2 and SCN5A genes)
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Utrecht
UTRECHT
Molecular diagnosis of Cardiac Conduction Abnormalities (gene panel; CAR03v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

West Midlands
BIRMINGHAM
Molecular diagnosis of Familial Long QT Syndrome by sequencing of the entire coding region of gene (s) (KCNQ1, KCNH2, SCN5A, KCNE1 & KCNE2 genes)
Birmingham Women's NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

Nordrhein-Westfalen
DORTMUND
Diagnosis of long QT syndrome (NGS screening panel, 13 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s)
: Somatic genetics
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Bayern
MÜNCHEN
Diagnosis of long QT syndrome (AKAP9, ANK2, CACNA1C, CAV3, KCNJ5, KCNQ1, KCNH2, KCNE1, KCNE2, SNTA1, SCN4B, SCN5A genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Hamburg
HAMBURG
Diagnosis of long QT syndrome (CACNA1C, KCNQ1, KCNH2, KCNE1,KCNE2 and SCN5A genes: sequencing, MLPA)
Labor Lademannbogen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

ANTWERPEN
ANTWERPEN-EDEGEM
Diagnosis of primary electrical disorders (gene panel)
Centrum Medische Genetica - UZA
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ILE-DE-FRANCE
PARIS
Diagnosis of cardiac rhythm diseases (Panel)
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of cardiac rhythm diseases (Panel)
CHU de Lyon HCL - GH Est
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques

Nordrhein-Westfalen
KÖLN
Diagnosis of long QT syndrome (NGS panel, 84 genes)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of Romano-Ward syndrome (KCNQ1, KCNH2, KCNE1, KCNE2 genes)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: MLPA based techniques

TIROL
INNSBRUCK
Molecular diagnosis of Romano-Ward syndrome (SNTA1 gene, exon 3)
Medizinische Universität Innsbruck
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), Sanger sequencing

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of rare cardiac rhythm disease (gene 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), Sanger sequencing

TIROL
INNSBRUCK
Molecular diagnosis of Familial short QT syndrome and Romano-Ward syndrome (KCNH2 gene, exon 10)
Medizinische Universität Innsbruck
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), Sanger sequencing

Noord-Holland
AMSTERDAM
Diagnosis of Cardiac Arrhythmia (gene panel)
Amsterdam UMC, locatie AMC
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of cardiac diseases (192 genes 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)

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of cardiac conduction system 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)

Tartu
TARTU
Molecular diagnosis of long QT syndrome (panel)
Asper Biogene
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of familial long QT syndrome (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)

Bayern
MÜNCHEN
Diagnosis of rare heart diseases (NGS screening panel, 157 genes)
Medizinisch Genetisches Zentrum München
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)

Bayern
NEU-ULM
Diagnosis of heart diseases (NGS screening panel: 263 genes)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Baden-Württemberg
TÜBINGEN
Diagnosis of heart diseases (NGS screening panel: 202 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)

ILE-DE-FRANCE
PARIS
Diagnosis of dystrophinopathy (Duchenne / Becker muscular dystrophy) and limb girdle muscular dystrophy (Panel)
AP-HP.Centre - Université de Paris - Hôpital Cochin
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)

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of sudden cardiac death (Panel)
CHU de Lyon HCL - GH Est
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), PCR based techniques

Noord-Holland
AMSTERDAM
Diagnosis of Cardiac Arrhythmia (ABCC9, AKAP9, ANK2, CACNA1D, CACNB2, CALM3, DPP6 (c.-340>T), GJA5, GPD1L, KCNA5, KCND3, KCNE3, KCNE5, KCNJ8, RANGRF, NPPA, SCN1B, SCN3B, SCN4B, SNTA1 and TRDN gene)
Amsterdam UMC, locatie AMC
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Bayern
WÜRZBURG
Diagnosis of cardiomyopathy (NGS screening panel, 77 genes)
Universität Würzburg - Biozentrum
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), Sanger sequencing

Asturias
OVIEDO
Diagnosis of rare cardiac disease (panel)
Hospital Universitario Central de Asturias
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

HAINAUT
GOSSELIES
Diagnosis of rare cardiac rhythm diseases (gene panel)
Institut de Pathologie et de Génétique
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)

OOST-VLAANDEREN
GENT
Diagnosis of congenital structural heart defects (gene panel)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

OOST-VLAANDEREN
GENT
Diagnosis of cardiopathies (gene panel)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

OOST-VLAANDEREN
GENT
Diagnosis of Romano-Ward and Jervell and Lange-Nielsen syndromes (gene panel)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

TRENTINO ALTO ADIGE
ROVERETO
Diagnosis of arrhythmogenic heart disease [panel of genes]
MAGI'S LAB srl
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

HAUTS-DE-FRANCE
AMIENS
Diagnosis of genetic cardiac disease
CHU Amiens-Picardie - Site Sud
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

AUVERGNE-RHONE-ALPES
SAINT-PRIEST-EN-JAREZ
Diagnosis of genetic cardiac disease (Panel)
CHU de Saint-Etienne - Hôpital Nord
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques, Array based techniques

Suisse Alémanique
SCHLIEREN
Diagnosis of long QT syndrome and Brugada syndrome (Panel)
Universität Zürich
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, Array based techniques, Whole Exome Sequencing (WES)

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE
Diagnosis of epileptic syndromes (Panel)
Laboratoire Cerba
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Whole Exome Sequencing (WES)

Grampian
ABERDEEN
Diagnosis of Long QT syndrome - LQT1, LQT2, LQT3, LQT5, LQT6 (Genes: KCNE1, KCNE2, KCNQ1, KCNH2, SCN5A)
Aberdeen Royal Infirmary, Polwarth Building
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Antrim and Newtownabbey
BELFAST
Molecular diagnosis of long QT syndrome (KCNQ1, KCNH2, KCNE1, KCNE2, and SCN5A genes sequencing and MLPA)
Belfast City Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Technique(s)
: MLPA based techniques

LOMBARDIA
MILANO
Molecular diagnosis of familial long QT syndrome (SCN5A gene)
IRCCS Ospedale San Raffaele
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Suisse Alémanique
REINACH
Molecular diagnosis of long QT syndrome type 1, 2, 3, 5 and 6 (KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 genes)
Diagene Laboratories Inc.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Andalucía
MÁLAGA
Diagnosis of familial long QT syndrome (KCNQ1 gene)
Health in Code. Málaga
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

Mecklenburg-Vorpommern
ROSTOCK
Diagnosis of long QT syndrome type 1-13 (ANK2, AKAP9, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN4B, SCN5A, SNTA1 genes)
CENTOGENE GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of Romano-Ward syndrome (KCNH2, KCNQ1, SCN5A, KCNE1 and KCNE2 genes)
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), Sanger sequencing

Comunidad Valenciana
VALENCIA
Diagnosis of Romano-Ward syndrome (panel)
Health in Code. Valencia
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Whole Exome Sequencing (WES)

Niedersachsen
OSNABRÜCK
Diagnosis of long QT syndrome (CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1 genes)
Praxis Dres. Gencik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Madrid
MADRID
Diagnosis of Romano-Ward syndrome
Hospital Universitario Fundación Jiménez Díaz
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: MLPA based techniques

Nordrhein-Westfalen
KÖLN
Diagnosis of long QT syndrome (KCNQ1, KCNH2, KCNE1,KCNE2 and SCN5A genes)
Zotz|Klimas Standort Köln
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Sachsen
DRESDEN
Diagnosis of long QT syndrome type 1-3, 5-9 (CAV3, CACNA1C, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN5A)
Gemeinschaftspraxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

CAMPANIA
NAPOLI
Diagnosis of Romano-Ward syndrome (KCNH2, KCNQ1, KCNE1, SCN5A, KCNE2 genes)
Biotecnologie Avanzate Srl
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

WIEN
WIEN
Diagnosis of familial long QT syndrome (SCN5A, KCNQ1, and KCNH2 genes)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

LAZIO
ROMA
Molecular diagnosis of long QT syndrome (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, CACNA1C and ANK2 genes)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Comunidad Valenciana
SANT JOAN D'ALACANT
Diagnosis of familial long QT syndrome (panel - 26 genes)
Centro Inmunológico de Alicante (CIALAB)
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)

Madrid
TRES CANTOS
Diagnosis of Brugada syndrome (panel)
Centro de estudios genéticos ATG Medical
Purpose(s)
: Pre-implantation diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

Baden-Württemberg
STUTTGART
Diagnosis of long QT syndrome type 1 (KCNQ1, KCNH2, SCN5A genes)
Praxis für Humangenetik und Prävention
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

VENETO
PADOVA
Postnatal molecular diagnosis of familial long QT syndrome (sequence analysis of the entire coding region of KCNQ1, KCNH2, SCN5A, ANK2, KCNE1, KCNE2, CAV3, SCN4B, SNTA1, KCNJ5, CALM1 genes)
Azienda Ospedaliera di Padova
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

Comunidad Valenciana
ELCHE
Diagnosis of familial long QT syndrome (gene panel)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

País Vasco
SAN SEBASTIÁN
Diagnosis of familial long QT syndrome (panel)
DNA Data
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)

Baden-Württemberg
FREIBURG
Diagnosis of long QT syndrome type (AKAP9, ANK2, CACNA1C, CALM1, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, SCN4B, SCN5A, SNTA1 genes)
Institut für Humangenetik am Universitätsklinikum Freiburg
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)
: NGS sequencing (except WES), Sanger sequencing

WIEN
WIEN
Molecular diagnosis of familial long QT syndrome (CAV3, KCNE1, KCNE2, KCNH2, KCNQ1, and SCN5A genes)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Greater London
LONDON
Analysis for Inherited Cardiac Conditions (Panel)
Royal Brompton & Harefield NHS Foundation
Purpose(s)
: 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, Uniparental disomy study, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Microsatellite analysis

VENETO
PADOVA
Molecular diagnosis of rare rare cardiac rhythm diseases [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
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)
: NGS sequencing (except WES), Whole Exome Sequencing (WES)

VENETO
PADOVA
Molecular diagnosis of familial long QT syndrome [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
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)
: NGS sequencing (except WES), Whole Exome Sequencing (WES)

LOMBARDIA
PAVIA
Diagnosis of rare cardiac rhythm diseases [panel of genes]
Microgenomics S.r.l.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

País Vasco
SAN SEBASTIÁN
Diagnosis of channelopathy (panel)
DNA Data
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Madrid
MADRID
Diagnosis of cardiovascular diseases (panel)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of cardiac rhythm diseases (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

La Rioja
LOGROÑO
Diagnosis of cardiac disease (panel)
Hospital San Pedro
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)

La Rioja
LOGROÑO
Diagnosis of long QT syndrome (panel)
Hospital San Pedro
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), MLPA based techniques

Galicia
A CORUÑA
Diagnosis of cardiac diseases (panel - 380 genes)
Health In Code. A Coruña
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)

Galicia
A CORUÑA
Diagnosis of cardiac arrhythmias (panel - 218 genes)
Health In Code. A Coruña
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)

Galicia
A CORUÑA
Diagnosis of ventricular arrhythmia and sudden death without structural heart disease (panel - 77 genes)
Health In Code. A Coruña
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)

Madrid
TRES CANTOS
Diagnosis of familial long QT syndrome (panel)
Centro de estudios genéticos ATG Medical
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

Madrid
TRES CANTOS
Diagnosis of Romano-Ward syndrome (panel)
Centro de estudios genéticos ATG Medical
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

Madrid
TRES CANTOS
Diagnosis of ventricular tachycardia (panel)
Centro de estudios genéticos ATG Medical
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

Madrid
TRES CANTOS
Diagnosis of Romano-Ward syndrome (KCNQ1, KCNH2 genes)
Centro de estudios genéticos ATG Medical
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: Sanger sequencing

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of cardiopathies (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Galicia
A CORUÑA
Diagnosis of familial long QT syndrome (panel - 28 genes)
Health In Code. A Coruña
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)

Galicia
A CORUÑA
Diagnosis of conduction disorders (panel - 34 genes)
Health In Code. A Coruña
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)

VENETO
PADOVA
Diagnosis of rare cardiac diseases [panel of genes]
Azienda Ospedaliera di Padova
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Whole Exome Sequencing (WES)

WIEN
WIEN
Diagnosis of Long QT syndrome (KCNQ1, KCNH2, KCNJ2, and SCN5A gene)
Hanusch Krankenhaus
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Hessen
FRANKFURT AM MAIN
Diagnosis of long QT syndrome (NGS panel, 16 genes)
Senckenberg Zentrum für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

MOLISE
POZZILLI
Diagnosis of familial long QT syndrome [panel of genes]
Istituto Neurologico Mediterraneo - IRCCS Neuromed
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)
: NGS sequencing (except WES), Sanger sequencing

Madrid
MADRID
Diagnosis of familial long QT syndrome (KCNQ1, KCNH2, SCN5A genes)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Cataluña
BARCELONA
Diagnosis of cardiac rhythm disease (panel)
Hospital Universitari Vall d'Hebron
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Baden-Württemberg
ULM
Diagnosis of rare heart diseases (NGS screening panel, 142 genes)
MVZ Humangenetik Ulm GbR
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)

Cataluña
BARCELONA
Diagnosis of familial long QT syndrome (panel)
Hospital Universitari Vall d'Hebron
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)

OCCITANIE
MONTPELLIER
Diagnosis of Romano-Ward syndrome (KCNH2 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

LOMBARDIA
PAVIA
Diagnosis of genetic cardiac rhythm disease [panel of genes]
Istituti Clinici Scientifici Maugeri IRCCS
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Sjælland
COPENHAGEN
Molecular diagnosis of long QT syndrome
Statens Serum Institut
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

SUL
LISBOA
Molecular diagnosis of long QT syndrome type 1, 2, 3 (KCNQ1, KCNH2, HERG, KCNE1 e SCN5A genes): sequencing of the coding region.
Faculdade de Medicina da Universidade de Lisboa
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

South Moravia
BRNO
Molecular diagnosis of long QT syndrome (KCNQ1, KCNH2 and KCNE1 genes)
University hospital Brno
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Közép-Magyarország
BUDAPEST
Biochemical genetics diagnosis of familial long QT syndrome by dHPLC analysis
Semmelweis University Hospital - 2nd Department of Paediatrics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

SLOVENIA
LJUBLJANA
Molecular diagnosis of Long QT syndrome (LQT1 and LQT7 genes)
University Medical Centre Ljubljana
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

BUCURESTI
BUCURESTI
Postnatal molecular diagnosis of familial long QT syndrome (SCN5A, KCNQ1 and KCNH2 genes: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
Technique(s)
: MLPA based techniques

Nordrhein-Westfalen
BONN
Diagnosis of long QT syndrome type 1 (KCNQ1 gene)
MVZ Institut für Klinische Genetik und Tumorgenetik Bonn GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Jylland
AARHUS
Molecular diagnosis of long QT syndrome (SCN5A, KCNE1 and KCNE2 gene sequencing and MLPA)
Klinisk Genetisk Afdeling - Aarhus Universitetshospital - Skejby
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Technique(s)
: MLPA based techniques

Nordrhein-Westfalen
BONN
Diagnosis of long QT syndrome type 1 (KCNQ1, KCNH2 genes)
MVZ Institut für Klinische Genetik und Tumorgenetik Bonn GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

TOSCANA
PISA
Molecular diagnosis of CAV3 related disorders
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

WIEN
WIEN
Molecular diagnosis of familial long QT syndrome (SCN5H, CAV3, KCNQ1, KCNH2, KCNE1, and KCNE2 genes)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

NORTE
PORTO
Molecular diagnosis of long QT syndrome 3 and 6 (SCN5A and KCNE2 gene: sequencing of 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

NORTE
PORTO
Diagnosis of long QT syndrome type 1,2,3 and 4 (KCNQ1, KCNE1, KCNH2 and ANK2 genes)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Castilla - León
SALAMANCA
Diagnosis of Romano-Ward and Jervell and Lange-Nielsen syndromes (SCN5A, KCNQ1, KCNH2, KCNE1 genes)
IBSAL - Instituto de Investigación Biomédica de Salamanca
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Hamburg
HAMBURG
Diagnosis of rare cardiomyopathy (NGS screening panel: 144 genes)
Hanse Genetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

TOSCANA
FIRENZE