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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
CHU de Lyon HCL - GH Est
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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

GERMANY

Nordrhein-Westfalen
BONN

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Universitätsklinikum Bonn (AöR)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
BONN

Accreditation
Diagnosis of familial juvenile polyposis (BMPR1A and SMAD4 genes)
Universitätsklinikum Bonn (AöR)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MARTINSRIED

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
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

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of familial adenomatous polyposis (APC, AXIN2 and MUTYH 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

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Diagnosis of familial adenomatous polyposis (APC, EPCAM, MSH3, MUTYH, NTHL1, POLD1 and POLE genes)
Center for Medical Genetics Gent
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

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Molecular diagnosis of familial adenomatous polyposis (APC gene)
Erasme Hospital - ULB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MYH genes)
Hôpitaux Universitaires de Genève HUG
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

Comunidad Valenciana
PATERNA

Accreditation
Diagnosis of familial adenomatous polyposis (APC gene)
Sistemas Genómicos S.L.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Familial Adenomatous Polyposis - FAP (APC gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Hôpitaux Universitaires de Genève HUG
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

AUSTRIA

STEIERMARK
GRAZ

Accreditation
Diagnosis of intestinal polyposis (APC, BMPR1A, ENG, PTEN, SMAD4, STK11, and MUTYH genes)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular diagnosis of Familial Adenomatous Polyposis including sequencing of MYH Polyposis common mutations (APC and MUTYH genes)
Birmingham Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

GERMANY

Sachsen
DRESDEN

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Sachsen
DRESDEN

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MARTINSRIED

Accreditation
Diagnosis of familial juvenile polyposis (BMPR1A, SMAD4 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

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
Molecular diagnosis of Familial Adenomatous Polyposis (APC and MUTYH genes: Molecular diagnosis through sequencing analysis)
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis, Detection of microdeletions/microduplications
Technique(s) : NGS sequencing (except WES), MLPA based techniques

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH 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)

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of hereditary colon carcinoma with polyposis (NGS screening panel: 9 genes)
Universitätsklinikum Regensburg
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

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Familial Adenomatous Polyposis (APC gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Molecular diagnosis of Autosomal Recessive Colorectal Adenomatous Polyposis (MUTYH gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Groningen
GRONINGEN

Accreditation
Molecular diagnosis of Colorectal Adenomatous Polyposis (MUTYH gene)
UMCG - Universitair Medisch Centrum Groningen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Diagnosis of Familial Adenomatous Polyposis (APC 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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Heinrich-Heine-Universität Düsseldorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
ELCHE

Accreditation
Diagnosis of the Peutz-Jeghers syndrome (STK11 gene)
Hospital General Universitario de Elche
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

Comunidad Valenciana
ELCHE

Accreditation
Diagnosis of Lynch syndrome (panel)
Hospital General Universitario de Elche
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)

FRANCE

OCCITANIE
MONTPELLIER

Accreditation
Diagnosis of familial adenomatous polyposis (APC gene: targeted mutation analysis)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Diagnosis of Multiple Colorectal Adenomas (MUTYH gene)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, MLPA based techniques

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
'Molecular diagnosis of Familial Adenomatous Polyposis including MYH Polyposis (APC: DNA sequencing and MLPA dosage; MUTYH: selective gene sequencing)'
Sheffield Children's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Juvenile Polyposis Coli (BMPR1A and SMAD4 gene)
Radboudumc - Radboud universitair medisch centrum
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

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
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

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of juvenile polyposis syndrome (ENG, BMPR1A and SMAD4 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, MLPA based techniques

GERMANY

Nordrhein-Westfalen
BONN

Accreditation
Diagnosis of familial adenomatous polyposis (MUTYH genes)
Universitätsklinikum Bonn (AöR)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
BONN

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
Universitätsklinikum Bonn (AöR)
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
Diagnosis of Attenuated Familial Adenomatous Polyposis (MUTYH gene)
Amsterdam UMC, locatie VUmc
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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Familial Adenomatous Polyposis (MUTYH, BMPR1A, NTHL1, SMAD4 and APC gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : 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

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Molecular diagnosis of Familial Adenomatous Polyposis (APC gene: Testing for known mutations in family members / Gene tracking)
Newcastle upon Tyne Hospitals NHS Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Molecular diagnosis of Familial Adenomatous Polyposis (APC: 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

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Diagnosis of Peutz-Jeghers Syndrome (STK11 gene)
Amsterdam UMC, locatie VUmc
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) : Sanger sequencing, MLPA based techniques

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Molecular diagnosis of Juvenile Polyposis syndrome (SMAD4 and BMPR1A genes: mutation screening by sequencing and dosage 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

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH 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

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Peutz-Jeghers Syndrome (STK11 gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Antenatal diagnosis, 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) : Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
ULM

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH genes: sequencing, MLPA)
Universitätsklinikum Ulm
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

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
MLPA analysis of microdeletion syndrome regions
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Baden-Württemberg
MANNHEIM

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Sachsen
LEIPZIG

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
MVZ Labor Dr. Reising-Ackermann und Kollegen
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
Diagnosis of familial adenomatous polyposis (APC gene: sequencing / MLPA; MUTYH gene: complete sequencing)
Diagenom 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

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene: sequencing / MLPA)
Diagenom 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

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
CLCC Jean Perrin
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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

GERMANY

Hamburg
HAMBURG

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Hamburg
HAMBURG

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH 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

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Diagnosis of attenuated familial adenomatous polyposis (APC, MUTYH, NTHL1, POLD1, POLE genes)
Heinrich-Heine-Universität Düsseldorf
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

SPAIN

Comunidad Valenciana
ELCHE

Accreditation
Diagnosis of the familial adenomatous polyposis (MUTYH and APC genes)
Hospital General Universitario de Elche
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

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Diagnosis of familial adenomatous polyposis (MUTYH gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
Cliniques Universitaires UCL Saint-Luc
Purpose(s) : 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)

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Cliniques Universitaires UCL Saint-Luc
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

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of juvenile gastrointestinal polyposis (SMAD4 gene)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis, Pre-symptomatic 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) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of juvenile gastrointestinal polyposis (BMPR1A and SMAD4 genes)
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
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) : Sanger sequencing, MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of attenuated familial adenomatous polyposis (MUTYH gene)
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, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of familial adenomatous polyposis (APC gene)
Asper Biogene
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
NEU-ULM

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
genetikum - Zweigniederlassung Neu-Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
HEIDELBERG

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
Institut für Humangenetik am Universitätsklinikum Heidelberg
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

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Murcia
EL PALMAR

Accreditation
Diagnosis of MUTYH-related attenuated familial adenomatous polyposis (MUTYH gene)
Centro de Bioquímica y Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Murcia
EL PALMAR

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Centro de Bioquímica y Genética Clínica
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

SPAIN

Murcia
EL PALMAR

Accreditation
Diagnosis of familial adenomatous polyposis (APC gene)
Centro de Bioquímica y Genética Clínica
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

Baden-Württemberg
MANNHEIM

Accreditation
Diagnosis of juvenile polyposis syndrome (BMPR1A and SMAD4 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

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular diagnosis of familial adenomatous polyposis (MYH gene: 2 common mutations by sequencing)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH 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

UNITED KINGDOM

Tayside
DUNDEE

Accreditation
Molecular diagnosis of Familial adenomatous polyposis - FAP (APC gene: sequence analysis and deletion testing by MLPA)
Ninewells Hospital and Medical School
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

UNITED KINGDOM

Tayside
DUNDEE

Accreditation
Molecular diagnosis of MUTYH-related attenuated familial adenomatous polyposis - MAP (MUTYH gene: sequence analysis and deletion testing by MLPA)
Ninewells Hospital and Medical School
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

AUSTRIA

WIEN
WIEN

Accreditation
Molecular diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Synlab MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Peutz-Jeghers Syndrome (STK11 gene)
Radboudumc - Radboud universitair medisch centrum
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

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Familial Adenomatous Polyposis (APC gene)
Radboudumc - Radboud universitair medisch centrum
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

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of MUTYH-associated Polyposis (MUTYH gene)
Radboudumc - Radboud universitair medisch centrum
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

AUSTRIA

STEIERMARK
GRAZ

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Hamburg
HAMBURG

Accreditation
Diagnosis of familial adenomatous polyposis (APC gene)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Molecular diagnosis of familial adenomatous polyposis and attenuated familial adenomatous polyposis (APC and MUTYH genes)
Medizinische Universität Innsbruck
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

GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
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

GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation
Diagnosis of familial juvenile polyposis (BMPR1A 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

GERMANY

Rheinland-Pfalz
MAINZ

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
Universitätsmedizin Mainz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Molecular diagnosis of Hereditary Mixed Polyposis Syndrome type 1 (SCG5-GREM1 duplication: Mutation screening by fragment analysis)
Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis

UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation
Molecular diagnosis of Hereditary Mixed Polyposis Syndrome type 2 (BMPR1A gene: mutation screening by sequencing)
Churchill Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

UNITED KINGDOM

Oxfordshire
OXFORD

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Hereditary Hemorrhagic Telangiectasia (ENG, ACVRL1 sequencing and MLPA, SMAD 4 sequencing)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 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

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of MUTYH-associated polyposis (MUTYH gene)
Asper Biogene
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Diagnosis of juvenile polyposis syndrome (ENG, BMPR1A and SMAD4 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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of intestinal polyposis syndrome (gene panel)
Reference Laboratory Genetics
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) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of polyposis syndromes (gene panel APC, STK11, SMAD4, BMPR1A)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene: 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
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
MARTINSRIED

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH 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

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of familial adenomatous polyposis (APC, AXIN2, MUTYH genes: sequencing / MLPA)
Pränatalmedizin München
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

GERMANY

Mecklenburg-Vorpommern
GREIFSWALD

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
Institut für Humangenetik der Universitätsmedizin Greifswald
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

Niedersachsen
HANNOVER

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH 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

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Famialial Adenomatous Polyposis (APC sequencing and MLPA analysis)
Mount Sinai Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of MUTYH-Associated Polyposis (MUTYH sequence analysis)
Mount Sinai Hospital
Purpose(s) : 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

Accreditation
Diagnosis of juvenile polyposis syndrome (ENG, BMPR1A and SMAD4 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

GERMANY

Niedersachsen
GÖTTINGEN

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
Institut für Humangenetik der Universität Göttingen
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

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
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

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of familial adenomatous polyposis (MUTYH 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

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of pilomatrixoma (MUTYH gene)
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
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Polymerase Proofreading Associated Polyposis (POLD1 and POLE gene)
Radboudumc - Radboud universitair medisch centrum
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
Diagnosis of juvenile polyposis syndrome (ENG, SMAD4 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

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of hyperplastic polyposis syndrome (RNF43 gene)
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

GERMANY

Niedersachsen
GÖTTINGEN

Accreditation
Diagnosis of polymerase proofreading-associated polyposis (POLE, POLD1 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) : NGS sequencing (except WES), Sanger sequencing

GERMANY

Bayern
WÜRZBURG

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH 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, MLPA based techniques

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of susceptibility to tumors (melanoma, pancreas, kidney, breast-ovary, colon, skin cancer) (Panel)
CLCC Jean Perrin
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

FRANCE

NORMANDIE
ROUEN

Accreditation
Diagnosis of susceptibility to colon cancer (polyposis and non-polyposis) (Panel)
CHU de Rouen
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

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of predisposition to colon-rectal tumors (Panel)
CLCC Institut Curie
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

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of predisposition to intestinal polyposes and digestive cancers (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
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, Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, BS-Pyrosequencing

FRANCE

BRETAGNE
RENNES

Accreditation
Diagnosis of predisposition to intestinal polyposes and digestive cancers (Panel)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Post-natal 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), Sanger sequencing, MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of familial juvenile polyposis (BMPR1A and SMAD4 genes)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of hereditary mixed polyposis syndrome (BMPR1A gene)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
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) : Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of hereditary breast, colon and ovarian cancer syndromes (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)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of familial adenomatous polyposis (Panel)
CHU Paris Centre - Hôpital Cochin, Site 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)

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Pränatalmedizin München
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

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Medizinisch Genetisches Zentrum München
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
ULM

Accreditation
Diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Universitätsklinikum Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of familial adenomatous polyposis (Panel)
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
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

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Accreditation
Diagnosis of predisposition to breast, ovarian and colon cancer (Panel)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
WÜRZBURG

Accreditation
Diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Universität Würzburg - Biozentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Medizinische Universität Innsbruck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Molecular diagnosis of Polymerase proofreading-related adenomatous polyposis (POLE (exon 13) and POLD1 (exon 11) genes)
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

UNITED KINGDOM

South Glamorgan
CARDIFF

Accreditation
Diagnosis of Peutz-Jeghers syndrome
University Hospital of Wales
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
VILLEJUIF

Accreditation
Diagnosis of inherited cancer predisposing syndrome (Panel)
CLCC Institut Gustave Roussy
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of Peutz-Jeghers syndrome (Panel)
CHU Paris Centre - Hôpital Cochin, Site Cochin
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), MLPA based techniques

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of generalized juvenile polyposis (BMPR1A and SMAD4 genes)
CLCC Jean Perrin
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

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
CLCC Jean Perrin
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

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of polymerase proofreading-related adenomatous polyposis (POLD1 and POLE genes)
CLCC Jean Perrin
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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

SWITZERLAND

Suisse Romande
SION

Accreditation
Diagnosis of hereditary cancer predisposition (panel)
Institut Central des Hôpitaux (ICH)
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Somatic genetics, Risk assessment
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

SWITZERLAND

Suisse Romande
SION

Accreditation
Diagnosis of familial adenomatous polyposis (Panel)
Institut Central des Hôpitaux (ICH)
Purpose(s) : Pre-implantation diagnosis, Pre-symptomatic diagnosis, Somatic genetics, Risk assessment
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

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of mental retardation and dysmorphology (NGS screening panel, 353 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)

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
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)

GERMANY

Bayern
MÜNCHEN

Accreditation
Diagnosis of familial juvenile polyposis (BMPR1A and SMAD4 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)

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Vision Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Hereditary Cancer (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

GERMANY

Bayern
REGENSBURG

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Universitätsklinikum Regensburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Accreditation
Diagnosis of juvenile polyposis syndrome (BMPR1A and SMAD4 genes)
Heinrich-Heine-Universität Düsseldorf
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

GERMANY

Bayern
NEU-ULM

Accreditation
Diagnosis of familial tumor syndromes (NGS screening panel: 40 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)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of familial adenomatous polyposis (panel)
Reference Laboratory Genetics
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)

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of skin diseases (NGS screening panel, 253 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)

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Diagnosis of NTHL1-associated Polyposis (NTHL1 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
VILLEJUIF

Accreditation
Diagnosis of familial polyposis (Panel)
CLCC Institut Gustave Roussy
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation
Diagnosis of hereditary tumor diseases (Panel - 43 genes)
Genetica AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of predisposition to polyposis (Panel)
CLCC Institut Curie
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), MLPA based techniques

FRANCE

GRAND-EST
STRASBOURG

Accreditation
Diagnosis of hereditary predisposition to digestive cancers, polyposes and gynecological cancers
CHU de Strasbourg - Hôpital de Hautepierre
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

SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation
Diagnosis of susceptibility to intestinal cancer (polyposis and non-polyposis) (Panel - 16 genes)
Genetica AG
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of tumors and colic polyposis (Panel)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of attenuated familial adenomatous polyposis (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

Niedersachsen
HANNOVER

Accreditation
Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
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

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
CHU Sart Tilman - Liège
Purpose(s) : 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

UNITED KINGDOM

West Yorkshire
LEEDS

Accreditation
Molecular diagnosis of Familial Adenomatous Polyposis (full coding region sequencing and dosage analysis, APC gene)
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Greater London
HARROW

Accreditation
Diagnosis of Familial Adenomatous Polyposis including MYH Polyposis (MUTYH gene)
North West London Hospitals NHS - Northwick Park & St Marks Hospital
Purpose(s) : Post-natal 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), MLPA based techniques

UNITED KINGDOM

Greater London
HARROW

Accreditation
Diagnosis of Peutz-Jegher syndrome (STK11 gene)
North West London Hospitals NHS - Northwick Park & St Marks Hospital
Purpose(s) : Post-natal 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), MLPA based techniques

UNITED KINGDOM

Greater London
HARROW

Accreditation
Diagnosis of Juvenile Gastrointestinal Polyposis (SMAD4 & BMPR1A genes)
North West London Hospitals NHS - Northwick Park & St Marks Hospital
Purpose(s) : Post-natal 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), MLPA based techniques

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

Accreditation
Molecular diagnosis of Familial Adenomatous Polyposis by testing for known mutations in family members (APC1 gene)
Belfast City Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

UNITED KINGDOM

West Yorkshire
LEEDS

Accreditation
Molecular diagnosis of Turcot syndrome (PMS2 gene)
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of juvenile gastrointestinal polyposis (BMPR1A and SMAD4 genes)
CLCC Institut Paoli Calmettes
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) : Sanger sequencing, MLPA based techniques

SWEDEN

Västra Götalandsregionen
GÖTEBORG

Accreditation
Molecular diagnosis of attenuated familial adenomatous polyposis (MUTYH gene: analysis of the two most common mutations)
Sahlgrenska Universitetssjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

UNITED KINGDOM

Greater London
HARROW

Accreditation
Diagnosis of Familial adenomatous polyposis - FAP (APC gene: full gene mutation scan)
North West London Hospitals NHS - Northwick Park & St Marks Hospital
Purpose(s) : Post-natal 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), MLPA based techniques

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Accreditation
Molecular diagnosis of Peutz-Jeghers syndrome (STK11 gene: all exons including intron bounderies, sequencing and MLPA)
Onkologicky ustav sv. Alzbety s.r.o.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

CANADA

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

Accreditation
Molecular Diagnosis of Attenuated Familial Adenomatous Polyposis (MUTYH p.Y165C; p.G382D mutations)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Ontario
LONDON

Accreditation
Molecular Diagnosis of High Penetrance Hereditary Cancer Predisposition - Comprehensive NGS Panel (16 genes)
London Health Sciences Centre
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)

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of predipositon to tumor (melanoma, pancreas, kidney, breast-ovary, colon, skin cancer) (Panel)
CLCC Institut Paoli Calmettes
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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of susceptibility to intestinal polyposis and digestive cancers (Panel)
CLCC Institut Paoli Calmettes
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

FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation
Diagnosis of predisposition to intestinal polyposes and digestive cancers
CLCC Léon Bérard
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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

Accreditation
Diagnosis of predisposition to intestinal polyposes and digestive cancers (Panel)
CLCC Georges François Leclerc
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) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

ITALY

LAZIO
ROMA

Molecular diagnosis of familial adenomatous polyposis (APC, MUTYH genes)
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CAMPANIA
NAPOLI

Diagnosis of familial adenomatous polyposis (APC, MUTYH 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

GERMANY

Bayern
ERLANGEN

Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Bayern
BAD STEBEN

Diagnosis of Peutz-Jeghers syndrome
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Madrid
MADRID

Diagnosis of familial adenomatous polyposis (APC gene)
Centro Nacional de Investigaciones Oncológicas (CNIO)
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

SPAIN

Madrid
MADRID

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Centro Nacional de Investigaciones Oncológicas (CNIO)
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

SPAIN

Cataluña
BARCELONA

Diagnosis of familial adenomatous polyposis (APC, MUTYH genes)
Hospital Clínic de Barcelona
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), MLPA based techniques

SWITZERLAND

Suisse Alémanique
BASEL

Molecular diagnosis of familial adenomatous polyposis (APC gene)
Universitätsspital Basel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWITZERLAND

Suisse Alémanique
BASEL

Molecular diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Universitätsspital Basel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

CAMPANIA
NAPOLI

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
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

GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Aragón
ZARAGOZA

Diagnosis of familial adenomatous polyposis (APC gene)
Hospital Universitario Miguel Servet
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Bayern
BAD STEBEN

Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SWITZERLAND

Suisse Alémanique
BASEL

Molecular diagnosis of juvenile gastrointestinal polyposis (BMPR1A and SMAD4 gene)
Universitätsspital Basel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of Peutz-Jeghers syndrome
Acibadem healthcare group
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Sistemas Genómicos S.L.
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

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Complejo Hospitalario Universitario de Santiago
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

ITALY

FRIULI VENEZIA GIULIA
AVIANO

Molecular diagnosis of familial adenomatous polyposis, autosomal recessive (MUTYH gene) and dominant (APC gene)
Centro di Riferimento Oncologico
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), MLPA based techniques

ITALY

TOSCANA
FIRENZE

Postnatal molecular diagnosis of Peutz-Jeghers syndrome (LKB1 gene)
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

ITALY

PIEMONTE
TORINO

Molecular diagnosis of Peutz-Jeghers syndrome (STK11/LKB1 gene)
A.O.U. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of familial adenomatous polyposis (APC gene)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Laboratorio Genoma
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
MÜNSTER

Diagnosis of familial adenomatous polyposis (APC gene)
Institut für Humangenetik des Universitätsklinikums Münster
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of familial adenomatous polyposis (APC gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Sachsen
DRESDEN

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of familial adenomatous polyposis (APC and MUTYH 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

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Sachsen
DRESDEN

Diagnosis of juvenile polyposis syndrome (BMPR1A and SMAD4 genes)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Sachsen
DRESDEN

Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
BARCELONA

Diagnosis of the familial adenomatous polyposis (APC gene; SNP array)
Reprogenetics Spain S.A.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

SPAIN

Madrid
MADRID

Molecular diagnosis of intestinal polyposis syndrome (APC, MUTYH, SMAD4 genes)
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Hamburg
HAMBURG

Diagnosis of familial adenomatous polyposis (APC gene: sequencing/ MLPA; MUTYH gene: sequencing)
Gemeinschaftspraxis für Humangenetik GbR
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

GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of familial adenomatous polyposis (APC and MUTYH genes: sequencing, MLPA)
Praxis für Humangenetik und Prävention
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

GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of Peutz-Jeghers syndrome (STK11 gene: sequencing / MLPA)
Praxis für Humangenetik und Prävention
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

GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of familial juvenile polyposis (BMPR1A and SMAD4 genes: sequencing, MLPA)
Praxis für Humangenetik und Prävention
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

Andalucía
MÁLAGA

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
IMEGEN - Delegación 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

POLAND

Poznan
POZNAN

Molecular diagnosis of attenuated familial adenomatous polyposis (MUTYH gene: Y165C and G382D mutations)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Diagnosis of familial adenomatous polyposis (APC gene; MUTYH gene / Y165C, G382D mutations)
IMEGEN - Delegación Málaga
Purpose(s) : Antenatal diagnosis, 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

SPAIN

Andalucía
MÁLAGA

Diagnosis of juvenile polyposis syndrome (SMAD4, BMPR1A genes)
IMEGEN - Delegación Málaga
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

ITALY

TOSCANA
PISA

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of familial adenomatous polyposis (APC gene / deletions in exon 15; MUTYH gene)
LabGenetics - 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
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
LabGenetics - 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
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of juvenile gastrointestinal polyposis (BMPR1A, SMAD4, PTEN genes)
LabGenetics - 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
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Madrid
MADRID

Diagnosis of MUTYH-related attenuated familial adenomatous polyposis (MUTYH gene)
Centro Nacional de Investigaciones Oncológicas (CNIO)
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

SPAIN

Andalucía
SEVILLA

Diagnosis of familial adenomatous polyposis (APC gene)
Hospital Universitario Virgen del Rocío
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

SPAIN

Andalucía
SEVILLA

Diagnosis of MUTYH-related attenuated familial adenomatous polyposis (MUTYH gene / exons 6 and 13)
Hospital Universitario Virgen del Rocío
Purpose(s) : Antenatal diagnosis, Pre-implantation 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, PCR based techniques

ITALY

TOSCANA
PISA

Diagnosis of familial adenomatous polyposis (APC, MUTYH genes)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

ITALY

LOMBARDIA
MONZA

Molecular diagnosis of familial adenomatous polyposis (APC, MUTYh genes)
Azienda Ospedaliera San Gerardo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Hamburg
HAMBURG

Diagnosis of Peutz-Jeghers syndrome (STK11 gene: sequencing / MLPA)
Gemeinschaftspraxis für Humangenetik GbR
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 familial adenomatous polyposis (APC gene, kit P043)
Hospital Universitario Donostia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of MUTYH-related attenuated familial adenomatous polyposis (MUTYH gene / mutations p.Tyr165Cys and p.Gly382Asp)
IMEGEN - Delegación Valencia
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

Comunidad Valenciana
PATERNA

Diagnosis of generalized juvenile polyposis/juvenile polyposis coli (SMAD4 and BMPR1A genes)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

ITALY

TOSCANA
PISA

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
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

Nordrhein-Westfalen
DÜSSELDORF

Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
Zotz|Klimas Standort Düsseldorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Sachsen
DRESDEN

Diagnosis of familial adenomatous polyposis (APC, MSH3, MUTYH, NTHL1 genes)
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

GERMANY

Sachsen
DRESDEN

Diagnosis of familial juvenile polyposis (BMPR1A and SMAD4 genes: sequencing, MLPA)
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

VENETO
COSTOZZA DI LONGARE

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
B.I.R.D. Foundation
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) : Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of APC-related attenuated familial adenomatous polyposis (APC gene)
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

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
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

SPAIN

La Rioja
LOGROÑO

Diagnosis of familial adenomatous polyposis (APC, MUTYH genes)
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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Diagnosis of juvenile polyposis syndrome (ENG, BMPR1A and SMAD4 genes)
Centogene AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
TERRASSA

Diagnosis of familial adenomatous polyposis (APC, MUTYH genes)
Consorci Sanitari de Terrassa
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

SPAIN

Cataluña
TERRASSA

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Consorci Sanitari de Terrassa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : 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

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of APC-related attenuated familial adenomatous polyposis (APC gene / MLPA)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

SPAIN

Asturias
OVIEDO

Diagnosis of APC-related attenuated familial adenomatous polyposis (APC gene)
IMOMA - Instituto de Medicina Oncológica y Molecular de Asturias
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

Asturias
OVIEDO

Diagnosis of MUTYH-related attenuated familial adenomatous polyposis (MUTYH gene)
IMOMA - Instituto de Medicina Oncológica y Molecular de Asturias
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

Cataluña
BARCELONA

Molecular diagnosis of familial adenomatous polyposis (APC gene)
Hospital del Mar
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Molecular diagnosis of MUTYH-related attenuated familial adenomatous polyposis (MUTYH gene)
Hospital del Mar
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Molecular diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Hospital del Mar
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
SABADELL

Diagnosis of familial adenomatous polyposis and attenuated (APC, MUTYH genes)
Corporación Sanitaria Parc Taulí
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Sachsen
DRESDEN

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Madrid
MADRID

Molecular diagnosis of Peutz-Jeghers syndrome (STK11 gene)
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
LEIPZIG

Diagnosis of familial adenomatous polyposis (APC gene)
Institut für Humangenetik am Universitätsklinikum Leipzig
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Hessen
WIESBADEN

Diagnosis of familial adenomatous polyposis (APC gene)
IMD Humangenetik Wiesbaden
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Bioarray
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

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of APC-related attenuated familial adenomatous polyposis (APC gene)
Bioarray
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

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of juvenile polyposis syndrome (BMPR1A, SMAD4 genes)
Bioarray
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
ELCHE

Diagnosis of MUTYH-related attenuated familial adenomatous polyposis (MUTYH gene)
Bioarray
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
STUTTGART

Diagnosis of familial juvenile polyposis (BMPR1A and SMAD4 genes)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : 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

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of hereditary mixed polyposis syndrome (BMPR1A gene)
LabGenetics - 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
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of familial colorectal cancer Type X (candidate gene BMPR1A)
LabGenetics - 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
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
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 attenuated familial adenomatous polyposis (APC, MUTYH genes)
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), MLPA based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of colon cancer (panel)
DNA Data
Purpose(s) : Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

CANADA

Alberta
CALGARY

Pediatric Cancer NGS Panel (12 genes)
Alberta Children's Hospital
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), PCR based techniques, MLPA based techniques, Array based techniques

CANADA

Alberta
CALGARY

Molecular Diagnosis of Familial Adenomatous Polyposis (NFLD mutation)
Alberta Children's Hospital
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

CANADA

Alberta
CALGARY

Molecular Diagnosis of Peutz-Jeghers Syndrome (STK11)
Alberta Children's Hospital
Purpose(s) : 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), Array based techniques

CANADA

Alberta
EDMONTON

Molecular Diagnosis of Peutz-Jeghers Syndrome (STK11)
University of Alberta
Purpose(s) : 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), Array based techniques

GERMANY

Sachsen
DRESDEN

Diagnosis of cancers predisposition by TruSight Cancer panel (NGS panel)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

ITALY

VENETO
COSTOZZA DI LONGARE

Diagnosis of APC-related diseases
B.I.R.D. Foundation
Purpose(s) : Antenatal diagnosis, 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) : Sanger sequencing, MLPA based techniques

GERMANY

Sachsen
DRESDEN

Diagnosis of hyperplastic polyposis syndrome (RNF43 gene)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Diagnosis of familial adenomatous polyposis (APC and MUTYH 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

GERMANY

Baden-Württemberg
FREIBURG

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
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

SPAIN

Cataluña
BADALONA

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Purpose(s) : Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of predisposition to colorectal cancer (Panel)
CHU de Montpellier - Hôpital Arnaud de Villeneuve
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

FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of predisposition to familial pancreatic carcinoma (Panel)
CHU de Montpellier - Hôpital Arnaud de Villeneuve
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

Cataluña
REUS

Diagnosis of the familial adenomatous polyposis (MUTYH and APC genes)
Hospital Universitari de Sant Joan de Reus
Purpose(s) : Pre-symptomatic diagnosis, Risk assessment
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

Comunidad Valenciana
ALICANTE

Diagnosis of APC-related attenuated familial adenomatous polyposis (APC gene)
Instituto Bernabeu Biotech
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Gardner syndrome (APC gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of genetic gynecological tumors and related disorders (panel, qCancer Gine)
qGenomics
Purpose(s) : Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of colorectal cancer (panel, qCancer CCR)
qGenomics
Purpose(s) : Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

ITALY

VENETO
PADOVA

Molecular diagnosis of hereditary liver 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)

GERMANY

Sachsen
DRESDEN

Diagnosis of hereditary mixed polyposis syndrome (BMPR1A, GREM1 genes)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Detection of microdeletions/microduplications
Technique(s) : Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of rare neoplastic diseases (panel, qCancer Risk)
qGenomics
Purpose(s) : Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
MADRID

Diagnosis of hereditary cancer (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)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of inherited cancer risk (panel, qCancer Risk Extended)
qGenomics
Purpose(s) : Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Diagnosis of inherited cancer risk (panel)
ICO Hospitalet - Hospital Duran i Reynals
Purpose(s) : Post-natal diagnosis, Somatic genetics, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

SPAIN

Madrid
MADRID

Diagnosis of generalized juvenile polyposis/juvenile polyposis coli (BMPR1A, SMAD4 genes)
Centro Nacional de Investigaciones Oncológicas (CNIO)
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

SPAIN

Madrid
MADRID

Diagnosis of polymerase proofreading-related adenomatous polyposis (POLD1, POLE genes)
Centro Nacional de Investigaciones Oncológicas (CNIO)
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

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of idiopathic intellectual disability, autism, growth delay, and / or multiple congenital anomalies (qChip« Post)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

SPAIN

La Rioja
LOGROÑO

Diagnosis of gastric cancer (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)

SPAIN

La Rioja
LOGROÑO

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
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)

SPAIN

La Rioja
LOGROÑO

Diagnosis of colorectal cancer (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)

SPAIN

La Rioja
LOGROÑO

Diagnosis of familial adenomatous polyposis (APC, MUTYH genes)
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)

SPAIN

La Rioja
LOGROÑO

Diagnosis of hereditary cancer (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)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of inherited cancer-predisposing syndrome (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, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of hereditary colorectal cancer (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Cowden syndrome (panel)
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)

AUSTRIA

WIEN
WIEN

Diagnosis of Peutz-Jeghers syndrome (STK11 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

AUSTRIA

WIEN
WIEN

Diagnosis of intestinal polyposis syndromes (APC, MUTYH, STK11, PTEN, and SMAD4 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

SPAIN

Andalucía
MÁLAGA

Diagnosis of hereditary colon cancer (panel)
Genologica
Purpose(s) : 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), MLPA based techniques

SPAIN

Galicia
A CORUÑA

Diagnosis of colon cancer (panel - 11 genes)
Health In Code
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

Galicia
A CORUÑA

Diagnosis of gastrointestinal and colorectal cancer (panel - 24 genes)
Health In Code
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
VALENCIA

Diagnosis of familial adenomatous polyposis (APC gene)
Hospital Universitario y Politécnico La Fe
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

GERMANY

Hessen
FRANKFURT AM MAIN

Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
Senckenberg Zentrum für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Galicia
A CORUÑA

Diagnosis of genetic cancer (panel - 128 genes)
Health In Code
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
VALENCIA

Diagnosis of MUTYH-related attenuated familial adenomatous polyposis (MUTYH gene / exons 7 and 13)
Hospital Universitario y Politécnico La Fe
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) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

SPAIN

Baleares
PALMA DE MALLORCA

Diagnosis of familial adenomatous polyposis (APC, MUTYH genes)
Hospital Universitario Son Espases
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

GERMANY

Hamburg
HAMBURG

Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
UKE - Universitätsklinikum Hamburg-Eppendorf
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

SPAIN

Asturias
OVIEDO

Diagnosis of inherited cancer (panel)
IMOMA - Instituto de Medicina Oncológica y Molecular de Asturias
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)

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Diagnosis of APC-related attenuated familial adenomatous polyposis (APC gene)
Complejo Hospitalario Universitario de Santiago
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
ULM

Diagnosis of familial adenomatous polyposis (APC and MUTYH genes)
MVZ Humangenetik Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Baleares
PALMA DE MALLORCA

Diagnosis of hereditary cancer (panel)
Hospital Universitario Son Espases
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Diagnosis of APC-related attenuated familial adenomatous polyposis (APC gene)
ICO Hospitalet - Hospital Duran i Reynals
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

GERMANY

Baden-Württemberg
ULM

Diagnosis of familial tumor syndromes (NGS screening panel: 35 genes)
MVZ Humangenetik Ulm
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)

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of solid tumors (panel)
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
MADRID

Diagnosis of APC and MUTYH related attenuated familial adenomatous polyposis (APC, MUTYH genes)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

PUGLIA
CASTELLANA GROTTE

Molecular diagnosis od familial adenomatous polyposis (APC, MYH genes)
IRCCS "Saverio De Bellis"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

PUGLIA
BARI

Molecular diagnosis of familial adenomatous polyposis (MLH1, MSH2, MSH6, MYH genes)
Azienda Ospedaliero-Universitaria Consorziale Policlinico di Bari
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

PUGLIA
BARI

Molecular diagnosis of Turcot syndrome (APC, MSH2, MLH1 genes)
Azienda Ospedaliero-Universitaria Consorziale Policlinico di Bari
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

PUGLIA
BARI

Molecular diagnosis of Peutz-Jeghers syndrome (STK11/LKB1 gene)
Azienda Ospedaliero-Universitaria Consorziale Policlinico di Bari
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

PUGLIA
BARI

Molecular diagnosis of juvenile gastrointestinal polyposis (BMPR1A, SMAD4, ENG genes)
Azienda Ospedaliero-Universitaria Consorziale Policlinico di Bari
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen-Anhalt
HALLE (SAALE)

Diagnosis of familial adenomatous polyposis (APC gene)
Medizinische Fakultät der Martin-Luther-Universität Halle-Wittenberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Sachsen-Anhalt
HALLE (SAALE)

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Medizinische Fakultät der Martin-Luther-Universität Halle-Wittenberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

PIEMONTE
CANDIOLO

Molecular diagnosis of familial adenomatous polyposis (APC, MUTYH genes)
IRCCS Istituto di Candiolo
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

SUL
LISBOA

Molecular diagnosis of familial adenomatous polyposis (APC and MYH genes)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

DENMARK

Jylland
AARHUS

Molecular diagnosis of familial adenomatous polyposis (APC and MUTYH gene sequencing and MLPA)
Aarhus Universitetshospital - Skejby
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

DENMARK

Jylland
AARHUS

Molecular diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Aarhus Universitetshospital - Skejby
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of familial adenomatous polyposis (APC gene)
ASST Grande Ospedale Metropolitano Niguarda
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

CYPRUS

Cyprus
NICOSIA

Mutation screening of familial adenomatous polyposis (APC 5q22.2)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

GREECE

ATTIKI
ATHENS

Molecular diagnosis of familial adenomatous polyposis (APC gene)
BIOGENOMICA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

SUL
LISBOA

Molecular diagnosis of Peutz-Jeghers syndrome (LKB1 gene)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of familial adenomatous polyposis (APC gene)
Instituto Português de Oncologia do Porto, EPE / IPOFG - CRO Porto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LIGURIA
GENOVA

Molecular diagnosis of familial adenomatous polyposis, autosomal recessive and dominant
Istituto Nazionale per la Ricerca sul Cancro - IST
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NORWAY

Østlandet
OSLO

Molecular diagnosis of autosomal recessive familial adenomatous polyposis (MUTYH gene)
Oslo University Hospital, Ullevaal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

Capital City Prague
PRAHA

Prenatal and postnatal molecular diagnosis of familial autosomal dominant adenomatous polyposis (APC gene)
Vseobecna fakultni nemocnice a 1. lekarska fakulta UK
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Noord-Holland
AMSTERDAM

Molecular diagnosis of autosomal recessive colorectal adenomatous polyposis (MUTYH gene)
Het Nederlands Kanker Instituut - Antoni van Leeuwenhoek Ziekenhuis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

DENMARK

Fyn
ODENSE

Molecular diagnosis of familial adenomatous polyposis (APC gene sequencing)
Amplexa Genetics A/S
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular diagnosis of Familial adenomatous polyposis (MUTYH gene)
Karolinska Universitetsjukhuset - Klinisk Genetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Molecular diagnosis of familial adenomatous polyposis (APC gene)
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
RAMAT GAN

Molecular diagnosis of Colon cancer (APC, MSH2, Mutation analysis, PGD)
Sheba Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
PETAH TIKVA

Molecular diagnosis of familial adenomatous polyposis (APC, Mutation analysis)
Rabin Medical Center - Beilinson Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of familial adenomatous polyposis (APC gene)
Charles University - First faculty of medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GREECE

ATTIKI
ATHENS

Molecular diagnosis of Peutz-Jeghers syndrome (full STK11 gene sequencing)
National center for scientific research Demokritos
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GREECE

ATTIKI
ATHENS

Molecular diagnosis of familial adenomatous polyposis (APC and MUTYH genes: full sequencing)
National center for scientific research Demokritos
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
TEL AVIV

Molecular diagnosis of familial adenomatous polyposis (APC full gene sequencing)
Pronto Diagnostics Ltd.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
TEL AVIV

Molecular diagnosis of attenuated familial adenomatous polyposis (MUTYH full gene sequencing)
Pronto Diagnostics Ltd.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ROMANIA

BUCURESTI
BUCURESTI

Postnatal molecular diagnosis of familial adenomatous polyposis (APC gene:deletion/duplication analysis by MLPA)
National institute of legal medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

DENMARK

Jylland
AARHUS

Molecular diagnosis of juvenile gastrointestinal polyposis (SMAD4 and BMPR1A gene sequencing and MLPA)
Aarhus Universitetshospital - Skejby
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

PORTUGAL

SUL
LISBOA

Diagnosis of familial adenomatous polyposis (APC and MUTYH gene)
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Sequence analysis: entire coding region, Detection of microdeletions/microduplications
Technique(s) : Sanger sequencing, MLPA based techniques

PORTUGAL

SUL
LISBOA

Molecular diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LIGURIA
GENOVA

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
IRCCS AOU San Martino - IST - DIMI
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

ITALY

LIGURIA
GENOVA

Diagnosis of juvenile polyposis (SMAD4, BMPR1A genes)
IRCCS AOU San Martino - IST - DIMI
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

SPAIN

País Vasco
DERIO

Molecular diagnosis of familial adenomatous polyposis (aCGH)
Genetadi Biotech S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

País Vasco
DERIO

Molecular diagnosis of juvenile gastrointestinal polyposis (aCGH)
Genetadi Biotech S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

SARDEGNA
CAGLIARI

Molecular diagnosis of familial adenomatous polyposis (APC, MUTYH genes)
Ospedale "R. Binaghi"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

País Vasco
DERIO

Molecular diagnosis of Peutz-Jeghers syndrome (aCGH)
Genetadi Biotech S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Berlin
BERLIN

Diagnosis of cancer (NGS screening panel, 402 genes)
ATG GenMed GmbH
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

CANADA

Québec
MONTRÉAL

Molecular diagnosis of familial adenomatous polyposis (APC gene by MLPA, Mutation I1307K, unknown mutation by PTT, individual mutation by sequencing & PTT)
Hôpital général juif - Jewish General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : MLPA based techniques

CANADA

Québec
MONTRÉAL

Molecular diagnosis of MUTYH-related attenuated familial adenomatous polyposis
Hôpital général juif - Jewish General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Peutz-Jeghers syndrome (STK11 gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

ITALY

PUGLIA
LECCE

Molecular diagnosis of familial adenomatous polyposis (APC gene)
Presidio Ospedaliero "Vito Fazzi" - ASL LE
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

ILHAS
FUNCHAL

Molecular diagnosis of familial adenomatous polyposis (APC gene: Sequencing of the exon 1-15)
Universidade da Madeira
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Peutz-Jeghers syndrome (STK11 gene: Sequencing of the entire coding region and deletion/duplication analysis by MLPA)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

Castilla - León
SALAMANCA

Diagnosis of APC-related attenuated familial adenomatous polyposis (APC gene)
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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

SPAIN

Castilla - León
SALAMANCA

Diagnosis of MUTYH-related attenuated familial adenomatous polyposis (MUTYH gene)
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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

SPAIN

Castilla - León
SALAMANCA

Diagnosis of generalized juvenile polyposis/juvenile polyposis coli (SMAD4, BMPR1A 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

SPAIN

Castilla - León
SALAMANCA

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
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

MOROCCO

Rabat
RABAT

Molecular diagnosis of attenuated familial adenomatous polyposis (MYH gene / Moroccan recurrent mutations)
Institut National d'Hygiène
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CYPRUS

Cyprus
NICOSIA

Analysis for known mutations of familial adenomatous polyposis (APC 5q22.2)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

CYPRUS

Cyprus
NICOSIA

Mutation screening of gastrointestinal cancer syndromes (C-KIT 4q12)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

CYPRUS

Cyprus
NICOSIA

Analysis of known mutations for gastrointestinal cancer (C-KIT 4q12)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

CYPRUS

Cyprus
NICOSIA

Analysis of known mutations for gastrointestinal cancer (PDFGRA 4q12)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

CYPRUS

Cyprus
NICOSIA

Mutation screening for gastrointestinal cancer (PDFGRA 4q12)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

CYPRUS

Cyprus
NICOSIA

Mutation screening for gastrointestinal cancer (CDH1 16q22.1)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

CYPRUS

Cyprus
NICOSIA

Analysis of known mutations for gastrointestinal cancer (CDH1 16q22.1)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

CYPRUS

Cyprus
NICOSIA

Analysis of known mutations for gastrointestinal cancer (VHL 3p25.3)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

CYPRUS

Cyprus
NICOSIA

Mutation screening for gastrointestinal cancer (VHL 3p25.3)
The Cyprus Institute of Neurology and Genetics
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons

AUSTRIA

WIEN
WIEN

Molecular diagnosis of (attenuated) familial adenomatous polyposis (APC, AXIN2, MSH3, and MUTYH genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Andalucía
GRANADA

Diagnosis of hereditary cancer (panel)
Hospital Universitario San Cecilio
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

ITALY

MOLISE
POZZILLI

Diagnosis of Peutz-Jeghers syndrome (STK11 gene)
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