Genetic Testing for Hereditary Cancer
The IMPPC Genetic Diagnostics for Hereditary Cancer Unit (UDGCH-IMPPC) is part of the ICO-IMPPC Joint Program for Hereditary Cancer which aims to detect and interpret mutations in genes that cause a predisposition to cancer. At the moment there are 70 known genes that cause different hereditary diseases which predispose to cancer when mutated. The UDGCH-IMPPC is specialized in genetic analysis of Neurofibromatosis and related syndromes and it will be increasing its scope for genetic tests for hereditary cancers.
At the moment the UDGCH-IMPPC offers genetic diagnostics based on standard molecular genetics techniques such as genetic sequencing and MLPA/qPCR for the detection of deletions and or duplications of specific genes. The unit is developing and setting up genomic techniques, such as Array-CGH or Next Generation Sequencing and it will soon be able to offer them for faster, cheaper and more efficient analyses.
Healthcare and Clinical Genetic Laboratory authorized by the Generalitat of Catalonia Ref.75204
Please, check procedure for requesting services seccion to know how to ask for a genetic study and which kind of samples are needed.
Members of the Unit
- Scientific Coordinator: Dr. Eduard Serra, Principal investigator of “Genetic Variation and Cancer” group. Head of service.
- Technical Coordiantor: Dra. Elisabeth Castellanos, biologist PhD. Appointment in advance, analysis coordinator, quality control, writing of genetic reports, invoicing and data base management.
- Laboratory technician: Inma Rosas, specialist technician in genetic diagnostics. Sample receipt, procedure execution, preliminary analysis, sending of reports.
Elisabeth Castellanos ecastellanos(ELIMINAR)@imppc.org
Unitat Diagnòstic Genètic de Càncer Hereditari
Institut de Medicina Predictiva i Personalitzada del Càncer (IMPPC)
Ctra. de Can Ruti, Camí de les Escoles s/n
08916 Badalona, Barcelona, Espanya
Tel (+34) 93 557 28 36
Fax (+34) 93 465 14 72
NEUROFIBROMATOSIS TYPE 1 - NF1 gene
Analysis of whole codifying region of NF1 gene
NEUROFIBROMATOSI DE TYPE 2 - NF2 gene
Analysis of whole codifying region of NF2 gene
FAMILIAL SCHWANNOMATOSI - SMARCB1/INI1 gene
Analysis of whole codifying region of SMACRB1 gene
LEGIUS SYNDROME - SPRED1 gene
Analysis of whole codifying region of SPRED1 gene
Certain forms of hereditary breast cancer and pancreatic cancer - PALB2 gene
Analysis of whole codifying region of PALB2 gene