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175 Result(s)
Caption
: Accreditation
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Nordrhein-Westfalen
DORTMUND
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
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

Hamburg
HAMBURG
Diagnosis of multiple endocrine neoplasia (MEN1 and RET genes)
Labor Lademannbogen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of multiple endocrine neoplasia (Panel)
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

Bayern
MÜNCHEN
Diagnosis of multiple endocrine neoplasia (MEN1 and RET 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

Finland
OULU
Molecular diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
Oulu University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

VLAAMS BRABANT
LEUVEN
Diagnosis of multiple endocrine neoplasia type 1 and type 4 (gene panel)
UZ Leuven - Campus Gasthuisberg
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

LIEGE
LIEGE
Molecular diagnosis of Multiple endocrine neoplasia type 1 (MEN1 gene)
CHU de Liège - UniLab Lg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ANTWERPEN
ANTWERPEN-EDEGEM
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
Centrum Medische Genetica - UZA
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

West Yorkshire
LEEDS
Molecular diagnosis of Multiple Endocrine Neoplasia type 1 (sequencing of all coding sequence, MEN1 gene)
St James's University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Suisse Romande
GENÈVE
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
Hôpitaux Universitaires de Genève HUG
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

Sachsen
DRESDEN
Diagnosis of multiple endocrine neoplasia (MEN1 and RET 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

Devon
EXETER
Molecular diagnosis of Multiple Endocrine Neoplasia (types 1, 2A and 2B) (MEN1, RET genes)
Royal Devon and Exeter Hospital - Wonford site
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Tayside
DUNDEE
Molecular diagnosis of Multiple Endocrine Neoplasia types MEN1, MEN2A, MEN2B by sequencing of the entire coding region of the gene (MEN1 gene) and sequencing of selected exons of the gene (RET gene)
Ninewells Hospital and Medical School
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

Baden-Württemberg
MANNHEIM
Diagnosis of multiple endocrine neoplasia (MEN1 and RET 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

Rheinland-Pfalz
INGELHEIM AM RHEIN
Diagnosis of multiple endocrine neoplasia (MEN1 and RET 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

Zuid-Holland
LEIDEN
Molecular diagnosis of Hyperparathyroidism- Jaw Tumor Syndrome (CDC73 gene)
LUMC - Leids Universitair Medisch Centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Utrecht
UTRECHT
Molecular diagnosis of Multiple Endocrine Neoplasia type 1 (MEN1 gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

South Yorkshire
SHEFFIELD
Molecular diagnosis of Multiple Endocrine Neoplasia type 1 (MEN1: DNA sequencing and MLPA dosage)
Sheffield Children's NHS Foundation Trust
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Technique(s)
: MLPA based techniques

Oxfordshire
OXFORD
Post-natal molecular diagnosis of CASR gene-associated diseases (CASR gene: by sequencing analysis of entire coding region)
Churchill Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

Oxfordshire
OXFORD
Post-natal molecular diagnosis of Hyperparathyroidism Jaw Tumour syndrome (HRPT2/CDC73 gene: mutation screening by sequencing of entire coding region and dosage analysis by MLPA/QF-PCR/QMPSF)
Churchill Hospital
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
Technique(s)
: PCR based techniques, MLPA based techniques

Oxfordshire
OXFORD
Molecular diagnosis of Multiple Endocrine Neoplasia types 1 & 2 (MEN1 and RET genes)
Churchill Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Region Stockholm
STOCKHOLM
Diagnosis of isolated hyperparathyroidism familial and hyperparathyroidism jaw tumour syndrome (CDC73 gene)
Karolinska Universitetssjukhuset - Solna
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Region Stockholm
STOCKHOLM
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
Karolinska Universitetssjukhuset - Solna
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

Sachsen
LEIPZIG
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
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

Mecklenburg-Vorpommern
ROSTOCK
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 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

Comunidad Valenciana
ELCHE
Diagnosis of the multiple endocrine neoplasia type 1 (MEN1 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

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Diagnosis of multiple endocrine neoplasia (gene panel)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Utrecht
UTRECHT
Molecular diagnosis of Familial Primary Hyperparathyroidism (MEN1 gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Thüringen
JENA
Diagnosis of multiple endocrine neoplasia (MEN1 and RET genes)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Murcia
EL PALMAR
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 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

Niedersachsen
HANNOVER
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
amedes genetics im MVZ wagnerstibbe
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

Suisse Alémanique
AARAU
Molecular diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene sequencing and deletion analysis)
Kantonsspital Aarau
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis

Gelderland
NIJMEGEN
Molecular diagnosis of Multiple Endocrine Neoplasia type 1 and 2 (MEN1 and RET 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

STEIERMARK
GRAZ
Diagnosis of Multiple endocrine neoplasia (RET and MEN1 genes)
Medizinische Universität Graz
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

Bayern
MÜNCHEN
Diagnosis of multiple endocrine neoplasia (MEN1 and RET 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)

Oxfordshire
OXFORD
Molecular diagnosis of MEN1 like phenotype (CDKN1A, CDKN2B, CDKN2C & CDKN1B: 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

TIROL
INNSBRUCK
Diagnosis of familial parathyroid adenomas (MEN1 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

Baden-Württemberg
KARLSRUHE
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 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

Nordrhein-Westfalen
KÖLN
Diagnosis of multiple endocrine neoplasia (CDKN1B, MEN1 and RET 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

Devon
EXETER
Molecular diagnosis of Hyperparathyroidism (familial gestational and type 1) by sequencing of the entire coding region of gene (s) (CDC73, TSHR genes)
Royal Devon and Exeter Hospital - Wonford site
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

Cataluña
L'HOSPITALET DE LLOBREGAT
Molecular diagnosis of hyperparathyroidism-jaw tumor syndrome (CDC73 gene)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Niedersachsen
HANNOVER
Diagnosis of multiple endocrine neoplasia (CDKN1B, MEN1 and RET 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

Hamburg
HAMBURG
Diagnosis of isolated hyperparathyroidism / jaw tumor syndrome (CDC73 gene)
Labor Lademannbogen
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

Baden-Württemberg
HEIDELBERG
Diagnosis of multiple endocrine neoplasia (MEN1 and RET 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, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

OCCITANIE
MONTPELLIER
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: Sanger sequencing

ILE-DE-FRANCE
PARIS
Diagnosis of calcium metabolism anomalies (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)

ILE-DE-FRANCE
PARIS
Diagnosis of endocrine diseases (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)

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
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

HAUTS-DE-FRANCE
LILLE
Diagnosis of endocrine diseases (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

OCCITANIE
TOULOUSE
Diagnosis of endocrine tumors (Panel)
Institut Fédératif de Biologie
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

Bayern
MÜNCHEN
Diagnosis of multiple endocrine neoplasia (CDKN1B, MEN1 and RET genes)
Pränatal-Medizin München MVZ GmbH
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

Bayern
MÜNCHEN
Diagnosis of familial isolated hyperparathyroidism (CDC73, MEN1 genes)
Pränatal-Medizin München MVZ GmbH
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

Bayern
MÜNCHEN
Diagnosis of jaw tumor syndrome (CDC73 gene)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Ontario
MISSISSAUGA
Molecular Cytogenetic Solid Tumor Analysis (Paraffin Embedded Tissue ALK, MYC, ERBB2)
Trillium Health Partners- Credit Valley Site
Purpose(s)
: Somatic genetics
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of chromosome alterations large in size
Technique(s)
: FISH

Bayern
MÜNCHEN
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)

Baden-Württemberg
ULM
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)

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)

Bayern
WÜRZBURG
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)

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Diagnosis of familial pituitary adenoma (Panel)
CHU de Marseille - Hôpital de la Conception
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

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Diagnosis of multipe endocrine neoplasia type 1 and type 4 (Panel)
CHU de Marseille - Hôpital de la Conception
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

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Diagnosis of familial isolated hyperparathyroidism (Panel)
CHU de Marseille - Hôpital de la Conception
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

TIROL
INNSBRUCK
Molecular diagnosis of familial isolated hyperparathyroidism (CDC73 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

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Diagnosis of phosphocalcic metabolism (Panel)
CHU Paris-Sud - Hôpital de Bicêtre
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

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
Diagnostic de la néoplasie endocrinienne multiple type 1 (gène MEN1)
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

Suisse Romande
SION
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

Gelderland
NIJMEGEN
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)

Bayern
NEU-ULM
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)

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of multiple endocrine neoplasia (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)

AUVERGNE-RHONE-ALPES
BRON
Diagnosis of familial isolated hyperparathyroidism (Panel)
CHU de Lyon HCL - GH Est
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), MLPA based techniques

Suisse Alémanique
ZÜRICH
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)

NORMANDIE
ROUEN
Diagnosis of rare genetic tumor (Phenotyping in oncogenetics) (Whole exome)
CHU de Rouen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

Baden-Württemberg
TÜBINGEN
Diagnosis of multiple endocrine neoplasia (MEN1 and RET 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, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Bayern
NEU-ULM
Diagnosis of multiple endocrine neoplasia (MEN1 and RET 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), Sanger sequencing

LIEGE
LIEGE
Diagnosis of predisposition to hereditary cancers (broad panel of 26 genes)
CHU Sart Tilman - Liège
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

OOST-VLAANDEREN
GENT
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
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), MLPA based techniques

VLAAMS BRABANT
LEUVEN
Diagnosis of rare hyperparathyroidism (gene panel)
UZ Leuven - Campus Gasthuisberg
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)

NOUVELLE AQUITAINE
LIMOGES
Diagnosis of calcium metabolism anomalies (Panel)
CHU de Limoges - Hôpital Dupuytren
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)

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Diagnosis of endocrine tumors (Panel)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Baden-Württemberg
SINGEN /HTWL.
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene: sequencing / MLPA)
Institut für Laboratoriumsmedizin und 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

Vestlandet
BERGEN
Molecular diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
Haukeland University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Finland
KUOPIO
Molecular diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
University of Eastern Finland
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Terre-Neuve-et-Labrador
ST. JOHN'S
Molecular Diagnosis Multiple Endocrine Neoplasia type 1 (MEN1 p.R465* mutation)
Health Sciences Centre
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Ontario
LONDON
Molecular Diagnosis of Multiple Endocrine Neoplasia type 1 (MEN1 sequencing)
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)

Ontario
LONDON
Molecular Diagnosis of Hereditary Cancer (Comprehensive NGS Panel)
London Health Sciences Centre
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)

LOMBARDIA
MILANO
Molecular diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
IRCCS Ospedale San Raffaele
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Madrid
MADRID
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 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)
: Sanger sequencing, MLPA based techniques

PIEMONTE
TORINO
Molecular diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
A.O.U. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Suisse Alémanique
ZÜRICH
Molecular diagnosis of Multiple Endocrine Neoplasia types 1 and 2
Universitätspital Zürich
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Cataluña
BARCELONA
Diagnosis of multiple endocrine neoplasia types 1 and 4 (MEN1 and CDKN1B genes)
Hospital de la Santa Creu i Sant Pau
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Newborn screening
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Niedersachsen
OSNABRÜCK
Diagnosis of multiple endocrine neoplasia (MEN1 and RET genes)
Praxis Dres. Gencik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Cataluña
BARCELONA
Diagnosis of multiple endocrine neoplasia type 1 (MEN1, CDKN1B 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)
: Sanger sequencing, MLPA based techniques

País Vasco
BARAKALDO
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
Instituto de Investigación sanitaria Biocruces Bizkaia
Purpose(s)
: Antenatal diagnosis, 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, Uniparental disomy study, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques, Microsatellite analysis

Galicia
SANTIAGO DE COMPOSTELA
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
Hospital Clínico Universitario de Santiago
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

Cataluña
BARCELONA
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene; SNP array)
Reprogenetics Spain S.A.
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics, Other
Objective(s)
: Targeted mutation analysis
Technique(s)
: Sanger sequencing, PCR based techniques

LAZIO
ROMA
Molecular diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
Laboratorio Genoma
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Mecklenburg-Vorpommern
ROSTOCK
Diagnosis of multiple endocrine neoplasia (MEN1 and RET genes)
Centogene AG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Hamburg
HAMBURG
Diagnosis of multiple endocrine neoplasia (MEN1 and RET genes)
Gemeinschaftspraxis für Humangenetik GbR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
STUTTGART
Diagnosis of multiple endocrine neoplasia (MEN1 and RET genes)
Praxis für Humangenetik und Prävention
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Andalucía
SEVILLA
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
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

Andalucía
MÁLAGA
Diagnosis of hyperparathyroidism - jaw tumor syndrome (CDC73 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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Castilla - León
SALAMANCA
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
Innovagenomics, S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
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, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of hyperparathyroidism - jaw tumor syndrome (CDC73 gene)
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)
: Sanger sequencing

Madrid
MADRID
Diagnosis of familial primary hyperparathyroidism (CDC73 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), PCR based techniques

Andalucía
MÁLAGA
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Baden-Württemberg
STUTTGART
Diagnosis of familial primary hyperparathyroidism / jaw tumor syndrome (CDC73 gene:sequencing))
Praxis für Humangenetik und Prävention
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Sachsen
DRESDEN
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene: 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

CAMPANIA
NAPOLI
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 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

Comunidad Valenciana
PATERNA
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 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

La Rioja
LOGROÑO
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
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)
: Sanger sequencing, MLPA based techniques

Baden-Württemberg
STUTTGART
Diagnosis of multiple endocrine neoplasia (MEN1 and RET 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

Comunidad Valenciana
SANT JOAN D'ALACANT
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
Centro Inmunológico de Alicante (CIALAB)
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

Asturias
OVIEDO
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 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
Technique(s)
: Sanger sequencing

Cataluña
BARCELONA
Molecular diagnosis of familial primary hyperparathyroidism (CDC73 gene)
Hospital del Mar
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Cataluña
BARCELONA
Molecular diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
Hospital del Mar
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

WIEN
WIEN
Diagnosis of multiple endocrine neoplasia (MEN1 and RET genes)
Labordiagnostik GmbH
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)
: Sanger sequencing, MLPA based techniques

Közép-Magyarország
BUDAPEST
Mutation screening of the MEN1 gene
2nd Department of Internal Medicine, Semmelweis University
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Comunidad Valenciana
ELCHE
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 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

Comunidad Valenciana
ELCHE
Diagnosis of hyperparathyroidism-jaw tumor syndrome (CDC73 gene)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Baden-Württemberg
STUTTGART
Diagnosis of familial isolated hyperparathyroidism (MEN1 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

WIEN
WIEN
Molecular diagnosis of Multiple endocrine neoplasia type 1 (MEN1 gene)
Allgemeines Krankenhaus der Stadt Wien
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

Cataluña
BADALONA
Diagnosis of multiple endocrine neoplasia (MEN1, RET genes)
Hospital Germans Trias I Pujol
Purpose(s)
: Pre-implantation diagnosis, Post-natal diagnosis, Somatic genetics
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

WIEN
WIEN
Molecular diagnosis of multiple endocrine neoplasia (MEN1 and RET genes)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

WIEN
WIEN
Molecular diagnosis of primary hyperparathyroidism (CDC73 and MEN1 genes)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Alberta
EDMONTON
Molecular Diagnosis of Endocrine Disorders - NGS Panel (7 genes)
University of Alberta
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

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)

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)

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

Rheinland-Pfalz
MAINZ
Diagnosis of multiple endocrine neoplasia (MEN1 and RET genes)
Universitätsmedizin Mainz
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
Technique(s)
: Sanger sequencing

Rheinland-Pfalz
MAINZ
Diagnosis of jaw tumor syndrome (CDC73 gene)
Universitätsmedizin Mainz
Purpose(s)
: Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

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

La Rioja
LOGROÑO
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 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)

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of primary hyperparathyroidism (CASR, CDC73, GCM2, MEN1 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

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)

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)

LOMBARDIA
CREMONA
Diagnosis of multiple endocrine neoplasia type 1 and 2 (MEN1, RET genes)
ASST Cremona
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

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

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

WIEN
WIEN
Diagnosis of multiple endocrine neoplasia and primary hyperparathyroidism (MEN1, RET, CDKN1B, and CDC73 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

Galicia
A CORUÑA
Diagnosis of multiple endocrine neoplasia (panel - 3 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)

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)

NORMANDIE
CAEN
Diagnosis of isolated and syndromic hyperparathyroidism (Panel)
CHU de Caen - Hôpital Clémenceau
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

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)

Baden-Württemberg
ULM
Diagnosis of familial tumor syndromes (NGS screening panel: 35 genes)
MVZ Humangenetik Ulm GbR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

Baden-Württemberg
ULM
Diagnosis of rare renal diseases (NGS screening panel, 268 genes)
MVZ Humangenetik Ulm GbR
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

VENETO
PADOVA
Diagnosis of familial isolated hyperparathyroidism (GCM2 gene)
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)
: Sanger sequencing

Comunidad Valenciana
PATERNA
Diagnosis of multiple endocrine neoplasia type 1 (CDKN1B, MEN1 genes)
Sistemas Genómicos S.L.
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Comunidad Valenciana
PATERNA
Diagnosis of familial cancer (panel)
Sistemas Genómicos S.L.
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis, Pharmacogenetics, Somatic genetics, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

NORMANDIE
ROUEN
Histological and immunohistological of multiple endocrine neoplasia (MEN1-MEN2)
CHU de Rouen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics, Pathology
Objective(s)
: Protein expression
Technique(s)
: Immunohistochemistry

PUGLIA
SAN GIOVANNI ROTONDO
Diagnosis of familial hyperparathyroidism (HRPT2, MEN1 genes)
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
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

County Dublin
DUBLIN
Biochemical diagnosis of multiple endocrine neoplasia, type 1
Mater Misericordiae Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

Jylland
ALBORG
Molecular diagnosis of multiple endocrine neoplasia, types 1 and 2
Alborg Sygehus Nord
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Jylland
AARHUS
Molecular diagnosis of multiple endocrine neoplasia, types 1 and 2 (MEN1 and RET genes)
Aarhus Universitetshospital - Skejby
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ATTIKI
ATHENS
Molecular diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
BIOGENOMICA
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

LOMBARDIA
CUSANO MILANINO
Molecular diagnosis of multiple endocrine neoplasia type 1 (MEN1; MEN1 and CDKN1B genes)
Istituto Auxologico Italiano
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

PUGLIA
SAN GIOVANNI ROTONDO
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
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

LOMBARDIA
BRESCIA
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 and CDKN1b genes)
ASST Spedali Civili di Brescia
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), Sanger sequencing, MLPA based techniques

Fyn
ODENSE
Molecular diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
Amplexa Genetics A/S
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

VENETO
PADOVA
Molecular diagnosis of familial hyperparathyroidism (CDC73, MEN1 genes)
Istituto Oncologico Veneto IRCCS
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

VENETO
PADOVA
Molecular diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
Istituto Oncologico Veneto IRCCS
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Fyn
ODENSE
Molecular diagnosis of familial primary hyperparathyroidism (CDC73 gene sequencing)
Amplexa Genetics A/S
Purpose(s)
: Antenatal diagnosis, 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

IRAKLIO
HERAKLION
Molecular diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene: detection of known mutations; full sequencing)
DNA analysis
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis

Jylland
AARHUS
Molecular diagnosis of hyperparathyroidism - jaw tumor syndrome (CDC73 gene sequencing)
Aarhus Universitetshospital - Skejby
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

PUGLIA
SAN GIOVANNI ROTONDO
Diagnosis of hyperparathyroidism - jaw tumor syndrome (HRPT2 gene)
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

SUL
LISBOA
Diagnosis of familial isolated hypoparathyroidism (CDC73 and CASR genes): sequencing of the entire coding region.
Faculdade de Medicina da Universidade de Lisboa
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

SUL
LISBOA
Molecular diagnosis of multiple endocrine neoplasia type 1 and 2 (RET and MEN1 genes): sequencing of the entire coding region.
Faculdade de Medicina da Universidade de Lisboa
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

LIGURIA
GENOVA
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
IRCCS Ospedale Policlinico San Martino - IST - DIMI
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: NGS sequencing (except WES)

WIEN
WIEN
Molecular diagnosis of primary hyperparathyroidism (CASR and GCM2 genes)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

PUGLIA
LECCE
Molecular diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
Presidio Ospedaliero "Vito Fazzi" - ASL LE
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

WIEN
WIEN
Molecular diagnosis of Multiple endocrine neoplasia (RET, MEN1, and CDKN1B genes)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

NORTE
PORTO
Molecular diagnosis of Familial isolated hyperparathyroidism (MEN1 gene: sequencing of 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

NORTE
PORTO
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 gene)
CGC Genetics / Centro de Genética Clínica
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

Castilla - León
SALAMANCA
Diagnosis of multiple endocrine neoplasia type 1 (MEN1 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

Alberta
CALGARY
Molecular Diagnosis of Endocrine Disorders - NGS Panel (7 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

SUL
LISBOA