Search for a diagnostic test
73 Result(s)
Caption
: Accreditation
= ;

Bayern
MARTINSRIED
Molecular diagnosis of familial malignant melanoma (CDKN2A 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

Bayern
MÜNCHEN
Molecular diagnosis of familial melanoma (CDKN2A, POT1 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

Suisse Romande
GENÈVE
Molecular diagnosis of familial melanoma (CDKN2A gene sequencing)
Hôpitaux Universitaires de Genève HUG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Bayern
REGENSBURG
Molecular diagnosis of familial malignant melanoma (CDKN2A gene)
Universitätsklinikum Regensburg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

OOST-VLAANDEREN
GENT
Molecular diagnosis of familial malignant melanoma (CDKN2A gene)
Center for Medical Genetics Gent
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Baden-Württemberg
FREIBURG
Molecular diagnosis of familial melanoma / melanoma-pancreatic cancer syndrome (CDKN2A and CDK4 gene)
Praxis für Humangenetik Freiburg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
MANNHEIM
Molecular diagnosis of familial melanoma (CDKN2A and CDK4 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

Hamburg
HAMBURG
Molecular diagnosis of familial malignant melanoma (CDKN2A gene)
Labor Lademannbogen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Comunidad Valenciana
ELCHE
Diagnosis of the familial melanoma (CDKN2A 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

VLAAMS BRABANT
LEUVEN
Molecular diagnosis of Familial melanoma (CDKN2A gene (p16, p14-ARF))
University Hospitals Leuven - Gasthuisberg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: MLPA based techniques

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES
Molecular diagnosis of Familial malignant melanoma (CDKN2A)
Université Catholique de Louvain - UCL
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
Molecular diagnosis of familial malignant melanoma (CDKN2A, CDKN2B, CDKN2D, and CDK4 genes)
Medizinische Universität Graz
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Nordrhein-Westfalen
DORTMUND
Molecular diagnosis of familial melanoma / melanoma-pancreatic cancer syndrome (CDKN2A and CDK4 gene)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s)
: Somatic genetics
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of rare skin tumor or harmatoma (gene panel)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Bayern
MÜNCHEN
Molecular diagnosis of familial melanoma / melanoma-pancreatic cancer syndrome (CDK4, CDKN2A genes)
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

Bayern
MÜNCHEN
Molecular 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
Molecular 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)

Bayern
WÜRZBURG
Molecular 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)

Bayern
BAD STEBEN
Molecular diagnosis of familial melanoma / melanoma-pancreatic cancer syndrome (CDKN2A and CDK4 gene)
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

West Yorkshire
LEEDS
Molecular diagnosis of Familial Melanoma (Sequence analysis of CDKN2a (exons 1alpha, 1beta, 2, 3) and CDK4 (exon 2)
St James's University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Ontario
LONDON
Molecular Diagnosis of Hereditary Cancer Predisposition - Comprehensive NGS Panel (25 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)

Baden-Württemberg
TÜBINGEN
Molecular diagnosis of susceptibility to malignant melanoma-5 (MC1R gene)
CeGaT GmbH
Purpose(s)
: Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

WIEN
WIEN
Molecular diagnosis of familial melanoma (CDKN2A, CDK4, MC1R, and MITF genes)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing, PCR based techniques

ILE-DE-FRANCE
VILLEJUIF
Diagnosis of predisposition to familial melanoma (CDKN2A/p14ARF, CDK4, MTIF and MC1R genes)
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)
: Sanger sequencing, PCR based techniques

ILE-DE-FRANCE
PARIS
Diagnosis of familial melanoma (Panel)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
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

LAZIO
ROMA
Molecular diagnosis of familial melanoma (CDK4, CDKN2A, MC1R genes)
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Aragón
ZARAGOZA
Molecular diagnosis of familial melanoma (CDKN2A gene / mutations in the coding regions and exon-intron boundaries)
Centro de Análisis Genéticos
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Cataluña
BARCELONA
Diagnosis of familial melanoma (CDK4, CDKN2A gene)
Centro de Diagnóstico Biomédico - CDB
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

LIGURIA
GENOVA
Molecular diagnosis of familial melanoma (CDKN2A,CDK4 genes)
IRCCS AOU San Martino - IST - DIMI
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Comunidad Valenciana
PATERNA
Diagnosis of familial melanoma (CDKN2A 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

NORTE
PORTO
Molecular diagnosis of familial melanoma (CDKN2A and CDK4 gene)
Instituto Português de Oncologia do Porto, EPE / IPOFG - CRO Porto
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

TOSCANA
PISA
Molecular diagnosis of familial melanoma (CDK4, CDKN2A 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

PIEMONTE
TORINO
Molecular diagnosis of familial melanoma (CDKN2A, p14Arf, CDK4 genes)
A.O. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

LAZIO
ROMA
Molecular diagnosis of familial melanoma (CDKN2A gene)
Laboratorio Genoma
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Niedersachsen
OSNABRÜCK
Molecular diagnosis of familial malignant melanoma (CDKN2A gene)
Praxis Dres. Gencik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
STUTTGART
Molecular diagnosis of familial melanoma / melanoma-pancreatic cancer syndrome (CDKN2A gene)
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

TURKEY
ISTANBUL
Molecular diagnosis of predisposition to familial melanoma (CDKN2A gene)
Genetiks - Genetic diagnosis and research center
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics

Warszawa
WARSAW
Molecular diagnosis of familial melanoma (CDKN2A gene)
NZOZ GENOMED
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

TOSCANA
PISA
Molecular 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

Hessen
FRANKFURT AM MAIN
Molecular diagnosis of familial malignant melanoma (CDKN2A gene: sequencing, MLPA)
bio.logis Zentrum 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

Comunidad Valenciana
PATERNA
Molecular diagnosis of susceptibility to familial melanoma (CDK4 gene / entire coding sequence)
IMEGEN - Instituto de Medicina Genómica
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

Sachsen
DRESDEN
Molecular diagnosis of familial melanoma / melanoma-pancreatic cancer syndrome (CDKN2A and CDK4 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

Bydgoszcz
BYDGOSZCZ
Molecular diagnosis of familial melanoma (CDKN2A gene)
Szpital Uniwersytecki im. dr. Antoniego Jurasza
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing, PCR based techniques

Galicia
SANTIAGO DE COMPOSTELA
Molecular diagnosis of familial melanoma (CDK4, CDKN2A genes)
CHUS - Complejo Hospitalario Universitario de Santiago
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

WIEN
WIEN
Molecular diagnosis of familial melanoma (CDKN2A and MITF genes)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Warszawa
WARSAW
Molecular diagnosis of familial melanoma (CDKN2A gene)
MEDGEN
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Baden-Württemberg
STUTTGART
Molecular diagnosis of familial melanoma (CDKN2A, CDK4 genes)
Klinikum Stuttgart - Standort Olgahospital
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

VENETO
PADOVA
Molecular diagnosis of familial melanoma (CDKN2A and CDK4 genes)
Istituto Oncologico Veneto IRCCS
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

NORTE
PORTO
Molecular diagnosis of familial melanoma (CDK4 gene: Sequencing of the entire codimg region)
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Asturias
OVIEDO
Diagnosis of susceptibility to familial melanoma (CDKN2A gene)
IMOMA - Instituto de Medicina Oncológica y Molecular de Asturias
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Andalucía
MÁLAGA
Molecular diagnosis of susceptibility to familial melanoma (CDK4 gene)
Genetaq
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics

Cataluña
BARCELONA
Molecular diagnosis of susceptibility to familial melanoma (CDKN2A gene / exon 2)
Hospital del Mar
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics

Madrid
MADRID
Molecular diagnosis of susceptibility to familial melanoma (CDKN2A gene)
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics

ILE-DE-FRANCE
PARIS
Predisposition to tumors (melanoma, pancreas, kidney, breast-ovary, colon, skin cancers) (Panel)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Purpose(s)
: 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

Comunidad Valenciana
ELCHE
Diagnosis of major susceptibility to familial melanoma (CDK4, CDKN2A genes)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

País Vasco
SAN SEBASTIÁN
Diagnosis of susceptibility to familial melanoma (CDK4, CDKN2A and CDKN2B genes)
DNA Data
Purpose(s)
: Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Alberta
CALGARY
Molecular Diagnosis of Hereditary Skin Cancer NGS Panel (6 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

Sachsen
DRESDEN
Molecular 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)

ILE-DE-FRANCE
VILLEJUIF
Diagnosis of tumors (Panel)
CLCC Institut Gustave Roussy
Purpose(s)
: Somatic genetics
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: NGS sequencing (except WES)

WIEN
WIEN
Molecular diagnosis of familial melanoma (CDKN2A gene)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

TOSCANA
FIRENZE
Molecular diagnosis of familial melanoma (CDKN2A and CDK4 genes)
Azienda Ospedaliero Universitaria Careggi - NEUROFARBA
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Baden-Württemberg
TÜBINGEN
Diagnosis of skin tumors (dermoscopy, ultrasound, histology and if applicable molecular analysis)
Zentrum für Dermatoonkologie am Universitätsklinikum Tübingen
Purpose(s)
: Post-natal diagnosis, Somatic genetics
Specialty(ies)
: Molecular genetics, Pathology

South Moravia
BRNO
Molecular diagnosis of familial melanoma (CDKN2A gene)
Masaryk Memorial Cancer Institute
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of familial melanoma (MC1R, CDKN2A/p16 and CDK4/exon 2)
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

Madrid
MADRID
Molecular diagnosis of familial melanoma and melanoma-pancreatic cancer syndrome (CDKN2A gene)
Centro Nacional de Investigaciones Oncológicas (CNIO)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Bayern
MÜNCHEN
Molecular diagnosis of familial melanoma / melanoma-pancreatic cancer syndrome (CDKN2A and CDK4 gene)
Institut für Humangenetik der LMU-München
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Madrid
MAJADAHONDA
Molecular diagnosis of familial melanoma (sequencing of CDKN2A gene)
Genyca Innova
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

LAZIO
ROMA
Molecular diagnosis of predisposition to familial melanoma (CDKN2A, CDK4 genes)
USI - Unione Sanitaria Internazionale
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics

Berlin
BERLIN
Molecular diagnosis of cancer (NGS Cancer Panel)
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)

Andalucía
CÁDIZ
Molecular diagnosis of familial melanoma (CDKN2A gene)
Hospital Universitario Puerta del Mar
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Andalucía
SEVILLA
Diagnosis of selection of therapeutic options for familial melanoma (BRAF gene)
Hospital Universitario Virgen del Rocío
Purpose(s)
: Somatic genetics
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

EMILIA ROMAGNA
MELDOLA
Molecular diagnosis of familial melanoma (hTERT mutation analysis)
IRST - Istituto Scientifico Romagnolo per lo studio e la cura dei Tumori
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

Dél-Alföld
SZEGED