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ITALY

TOSCANA
FIRENZE

Accreditation
Molecular diagnosis of familial hypertophic cardiomyopathy (MYH7, MYBPC3,TNNT2,TNNI3, MYL2, MYL3, ACTC, TPM1, GLA, LAMP2, PRKAG2 genes)
Azienda Ospedaliero Universitaria Careggi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Niedersachsen
GÖTTINGEN

Accreditation
Molecular diagnosis of familial hypertrophic cardiomyopathy (CSRP3, MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2, TPM1 genes)
Institut für Humangenetik der Universität Göttingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of Familial hypertrophic cardiomyopathy (MYBPC3, MYH7, TNNT2 genes)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of familial hypertrophic cardiomyopathy (CAV3, MYBPC3, MYH7, MYL2, TNNI3 TNNT2 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Limburg
MAASTRICHT

NETHERLANDS

Groningen
GRONINGEN

Accreditation
Molecular diagnosis of Hypertrophic Cardiomyopathy (MYH7 gene)
UMCG - Universitair Medisch Centrum Groningen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Molecular diagnosis of Familial Hypertrophic Cardiomyopathy - HCM/HOCM (ACTC1, CSRP3, FHL1, GLA, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, TPM1, TNNI3, TNNT2 gene panel; Mutation screening by high-througput sequencing)
The Churchill Hospital
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)

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of familial hypertrophic cardiomyopathy (ACTC1, CAV3, CSRP3, FHL1, MYBPC3, MYH6, MYH7, MYL2, MYL3, TNNT2, TTN, TPM1, PRKAG2 genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of familial hypertrophic cardiomyopathy (MYBPC3, MYH7, MYL3, TNNT2 and TPM1 genes)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Asturias
OVIEDO

Accreditation
Diagnosis of familial isolated dilated cardiomyopathy (MYH7, TNNT2, MYBPC3 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, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Niedersachsen
HANNOVER

Accreditation
Molecular diagnosis of familial hypertrophic cardiomyopathy (NGS panel)
amedes genetics im MVZ wagnerstibbe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Niedersachsen
HANNOVER

Accreditation
Molecular diagnosis of familial hypertrophic cardiomyopathy (ACTC1, MYBPC3, MYH7, MYL2, MYL3, TNNC1, TNNT2, TNNI3, TPM1 genes)
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular diagnosis of familial hypertrophic cardiomyopathy (CAV3, CSRP3, MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2, TPM1, VCL genes)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of familial hypertrophic cardiomyopathy (MYBPC3, MYH7, TNNT2 genes: sequencing)
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

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Molecular diagnosis of myofibrillary myopathies (BAG3, CRYAB, DES, FHL1, FLNC, LDB3, MYOT genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
WÜRZBURG

Accreditation
Molecular diagnosis of FHL1 gene-associated myopathies
Universität Würzburg - Biozentrum
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of familial hypertrophic cardiomyopathy (ACTC1, CAV3, CSRP3, MYBPC3, MYL2, MYL3, MYH7, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL genes)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Hypertrophic Cardiomyopathy (multigene panel; 45 genes)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : NGS sequencing (except WES)

FRANCE

NORMANDIE
CAEN

Accreditation
Molecular diagnosis of familial isolated hypertrophic cardiomyopathy (MT-TH, MT-TG and MT-TI genes)
CHU de Caen - Hôpital de la Côte de Nacre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation
Molecular diagnosis of familial hypertrophic cardiomyopathy (TNNT2 gene)
Labor PD Dr. Volkmann und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Cardiomyopathy (gene panel)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of FHL1 gene-associated myopathies
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), Sanger sequencing, Whole Exome Sequencing (WES)

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Molecular diagnosis of familial hypertrophic cardiomyopathy (ACTC1, MYH6, MYH7, MYL2, MYL3, MYBPC3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1 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

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Familial Hypertrophic Cardiomyopathy (TNNT2, PLN, MYL2, MYLK2, MYOZ2, MYH7, MYBPC3, CASQ2, CAV3, FHL1, TCAP, TNNC1, TNNI3, TPM1 and TTN gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
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

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Cardiomyopathy (gene panel; CAR01v16.1)
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)

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Congenital Heart Defects (gene panel; CAR05v16.1)
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)

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of familial hypertrophic cardiomyopathy (ACTC1, MYBPC3, MYH6, MYH7, PRKAG2, TCAP, TNNT2, TNNI3, TTN genes)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of familial hypertrophic cardiomyopathy (MYH7, MYL2, TCAP 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), Sanger sequencing, Whole Exome Sequencing (WES)

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of familial hypertrophic cardiomyopathy (MYBPC3, MYH7, TNNI3, TNNT2 genes)
Zweigniederlassung der synlab MVZ Augsburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Molecular diagnosis of familial hypertrophic cardiomyopathy (CAV3, MTATP6, MYBPC3, MYH7, TNNI3, TNNT2 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

CANADA

Ontario
OTTAWA

Accreditation
Molecular Diagnosis of Familial Hypertrophic Cardiomyopathy (19 gene panel; MYH7, MYBPC3, TNNT2 MLPA)
Children's Hospital of Eastern Ontario
Purpose(s) : Antenatal diagnosis, 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

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of familial hypertrophic cardiomyopathy (ACTC1, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, TNNI3, TNNT2, TPM1 genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of familial hypertrophic cardiomyopathy (ACTC1, CAV3, CSRP3, MYBPC3, MYH6, MYH7, MYLK2, MYL2, MYL3, PRKAG2, TNNC1, TNNT2, TNNI3, TPM1, VCL genes)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of familial hypertrophic cardiomyopathy (MYBPC3, MYH7, TNNT2 genes)
CeGaT GmbH
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

FRANCE

PAYS DE LA LOIRE
NANTES

Accreditation
Diagnosis of familial isolated hypertrophic cardiomyopathy (TPM1, TNNI3, TNNT2, MYBPC3, MYH7 genes)
CHU de Nantes - Institut de Biologie
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), Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of FHL1 gene-associated myopathies
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of cardiomyopathy (Panel)
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
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
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Cataluńa
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of familial isolated hypertrophic cardiomyopathy (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)

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of hypertrophic cardiomyopathy (multigene panel, 35 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)

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Cardiomyopathy (gene panel)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
PATERNA

Accreditation
Diagnosis of familial isolated hypertrophic cardiomyopathy (TNNI3 and MYBPC3 genes)
Sistemas Genómicos S.L.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Nordrhein-Westfalen
BAD OEYNHAUSEN

Accreditation
Molecular diagnosis of familial hypertrophic cardiomyopathy (ACTC1, CSRP3, MYL2, MYL3, MYBPC, MYH6, MYH7, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1 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
Technique(s) : Sanger sequencing, MLPA based techniques

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of Familial Hypertrophic Cardiomyopathy (MYBPC3 c.2864_2865delCT mutation)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Molecular diagnosis of familial hypertrophic cardiomyopathy (MYH7, MYBPC3, TNNT2, TNNI3 genes)
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
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
NÜRNBERG

Molecular diagnosis of familial hypertrophic cardiomyopathy (ACTC1, CSRP3, MYL2, MYBPC3, MYH7, TNNC1, TNNI3, TNNT2 and TPM1 genes)
Medizinisches Versorgungszentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

LIGURIA
GENOVA

Molecular diagnosis of hypertrophic cardiomyopathy (MYH7,MYBPC3,TNNT2,TPM1, TNNI3, ACTC genes)
Ospedali Galliera
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

HUNGARY

Dél-Dunántúl
PECS

Molecular diagnosis of hypertrophic and dilated cardiomyopathies (ACTC1 gene)
Clinical Center - University of Pécs
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluńa
BARCELONA

Diagnosis of the primary or idiopathic hypertrophic cardiomyopathy (MYBPC3 gene; SNP array)
Reprogenetics Spain S.A.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

PORTUGAL

NORTE
PORTO

Molecular diagnosis of MYBPC3-related familial hypertrophic cardiomyopathy (MYBPC3 gene: sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of familial isolated hypertrophic cardiomyopathy (ACTC1, MYBPC3, MYH6, MYH7, MYL2, MYL3, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1 genes)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

SUL
LISBOA

Molecular diagnosis of hypertrophic cardiomyopathy (MYBPC3, MYH7, TNNT2, TNNI3, MYL2, TPM1, ACTC1, MYL3 and CSRP3 genes): sequencing of the coding region.
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
ARMILLA

Molecular diagnosis of familial isolated hypertrophic cardiomyopathy (entire coding sequence of MYH7, MYBPC3, TNNT2, TNNI3, TPM1, ACTC, MYL2, MYL3 and TNNC genes)
Lorgen G.P.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of familial isolated hypertrophic cardiomyopathy (panel of 20 genes)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : NGS sequencing (except WES)

SPAIN

Galicia
A CORUŃA

GERMANY

Baden-Württemberg
STUTTGART

Molecular diagnosis of familial hypertrophic cardiomyopathy (MYH7, TNNT2, TNNI3 genes: sequencing)
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

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of familial hypertrophic cardiomyopathy (CAV3, MYBPC3, MYH7, MYL2, MYL3, TNNT2, TNNI3, TPM1)
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

ITALY

LAZIO
ROMA

Molecular diagnosis of familial hypertrophic cardiomyopathy (MYH7, MYBPC3, TNNT2 genes)
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of familial isolated hypertrophic cardiomyopathy (MYH7, MYBPC3, TNNT2, TPM1, ACTC, TNNI3, MYL2, MYL3 genes)
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of familial hypertrophic cardiomyopathy-9 (TTN gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of familial hypertrophic cardiomyopathy (CAV3 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of mitochondrial cardiomyopathies (mitochondrial genome)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

La Rioja
LOGROŃO

Diagnosis of familial isolated hypertrophic cardiomyopathy (MYH7 gene)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluńa
TERRASSA

Diagnosis of familial isolated hypertrophic cardiomyopathy (TNNT2, MYH7 gene)
Consorci Sanitari de Terrassa
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

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Caveolinopathies (CAV3 gene: analysis 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

PORTUGAL

NORTE
PORTO

Molecular diagnosis of familial hypertrophic cardiomyopathy (MYH7 and CALR3 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
SANT JOAN D'ALACANT

Molecular diagnosis of familial isolated hypertrophic cardiomyopathy (MYL2, TNNC1, MYH7, TNNT2, TPM1, MYBPC3, PRKAG2, TNNI3, MYL3, ACTC1, CAV3 genes / sequencing)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Familial isolated hypertrophic cardiomyopathy (NGS panel for ACTC1, CAV3, CSRP3, GLA, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL genes: Sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of FHL1 gene-associated myopathies
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
KÖLN

Molecular diagnosis of familial hypertrophic cardiomyopathy (MYBPC3, MYH7, TNNT2, TNNI3, TPM1 genes)
Institut für Humangenetik am Universitätsklinikum Köln
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

GERMANY

Hamburg
HAMBURG

Molecular diagnosis of familial hypertrophic cardiomyopathy (MYBPC3, MYH7, TNNT2 genes)
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

HAUTS-DE-FRANCE
LILLE

Molecular diagnosis of maternally-inherited mitochondrial hypertrophic cardiomyopathy (mitochondrial DNA : MT-TI gene)
CHRU de Lille - Centre de Biologie Pathologie Génétique
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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Diagnosis of cardiomyopathies (Panel)
CHU Henri Mondor
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

ILE-DE-FRANCE
PARIS

Diagnosis of cardiomyopathies (Panel)
CHU Paris-GH La Pitié Salpętričre-Charles Foix - Hôpital Pitié-Salpętričre
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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of cardiomyopathies (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
Technique(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of familial isolated hypertrophic cardiomyopathy (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)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of mitochondrial cardiopathies (MT-CYB, MT-TI, MT-TL genes)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of hypertrophic cardiomyopathy (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)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of cardiomyopathies (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)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of congenital heart diseases (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)

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of frequent mitochondrial myopathies (MT-TI, MT-TN, MT-TL1, MT-TL2)
DNA Data
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

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of arrhythmogenic right ventricular cardiomyopathy (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)

GERMANY

Baden-Württemberg
FREIBURG

Molecular diagnosis of familial hypertrophic cardiomyopathy (MYBPC3, MYH7, MYL2, PLN, PRKAG2, TNNI3, TNNT2, TPM1 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

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Diagnosis of distal myopathy (Panel)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal 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, PCR based techniques, MLPA based techniques

FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of distal myopathy (Panel)
IURC - Institut Universitaire de Recherche Clinique
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)

ITALY

LOMBARDIA
PAVIA

Molecular diagnosis of familial hypertrophic cardiomyopathies (MYH7, MYBPC3, TNNT2, TNNI3, AGAL, ACTC genes)
Fondazione IRCCS Policlinico San Matteo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

DENMARK

Sjćlland
COPENHAGEN

Molecular diagnosis of familial hypertrophic cardiomyopathy
Statens Serum Institut
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Rheinland-Pfalz
LUDWIGSHAFEN

Molecular diagnosis of mitochondrial hypertrophic cardiomyopathy (MTTG gene)
Klinikum der Stadt Ludwigshafen gGmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

HUNGARY

Közép-Magyarország
BUDAPEST

Biochemical genetics diagnosis of cardiomyopathy hypertrophic by dHPLC analysis
Semmelweis University Hospital - 2nd Department of Paediatrics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Nordrhein-Westfalen
BAD OEYNHAUSEN

Molecular diagnosis of familial hypertrophic cardiomyopathy (MYBPC3, MYH6, MYH7, MYL2, MYL3, TCAP, TNNC1, TNNT2, TNNI3 genes: sequencing, cardiomyopathy gene array, NGS)
Ruhr-Universität Bochum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Mitochondrial cardiomyopathy (Mitochondrial DNA, Mutation analysis)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FINLAND

Finland
KUOPIO

Molecular diagnosis of familial isolated hypertrophic cardiomyopathy (MYBPC3, MYH7 and TPM1 genes)
University of Eastern Finland
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ROMANIA

BUCURESTI
BUCURESTI

Postnatal molecular diagnosis of familial isolated hypertrophic cardiomyopathy (MYBPC3 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
Technique(s) : MLPA based techniques

ITALY

CAMPANIA
NAPOLI

Molecular diagnosis of familial hypertrophic cardiomyopathy (MYH7 and MYBPC3 genes)
Azienda Ospedaliera Universitaria - Seconda Universitŕ degli Studi di Napoli
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of familial isolated cardiomyopathy (gene panel)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Pre-symptomatic diagnosis, Newborn screening
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

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of ATP synthase deficiency (MT-ATP6, MT-ATP8, ATPAF2, TMEM70 genes)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Lothian
EDINBURGH

Molecular diagnosis of Familial isolated hypertrophic cardiomyopathy (MYH7, MYBPC3, MYL2, TNNI3, TNNT2 and TPM1 genes)
Western General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

País Vasco
VITORIA-GASTEIZ

Diagnosis of familial isolated hypertrophic cardiomyopathy (MYH7, MYBPC3, TNNT2, TNNI3, TPM1, PRKAG2, MYL3, MYL2, ACTC1 and TNNC1 genes)
HUA - Hospital Universitario Araba. Sede Txagorritxu
Purpose(s) : Post-natal 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

SPAIN

Madrid
MAJADAHONDA

Molecular diagnosis of familial isolated hypertrophic cardiomyopathy (sequencing of MYBPC3 , TNNT2 and MYH7 genes)
Genyca Innova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TOSCANA
PISA

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

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of familial isolated hypertrophic cardiomyopathy (MYBPC3, MYL2, TNNT2 genes)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques