Por que realizar este exame?

Hereditary gynaecological cancer is characterized by its incidence in individuals younger than 40 yearsold. In women, it accounts for between 5-15% of cases of this type of cancer. The origin of this genetic susceptibility often consists of mutations in the BRCA1 and BRCA2 genes, although there are other genes related to breast, ovarian and endometrial cancer that should be studied to provide more complete information for a more comprehensive medical analysis.

O que é o exame?

The BRCA + is an analysis of the patient DNA by Next Generation Sequencing (NGS), to detect point mutations and small insertions/deletions in 18 genes (ATM, BRCA 1, BRCA 1, BRIP 1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) related to hereditary gynaecological cancer. Additionally, the MLPA (Multiple Ligation Probe Amplification) technique of the BRCA1, BRCA2 and EPCAM genes is performed for the detection of large deletions and duplications.

Para quem é indicado?

• Women older than 30 yearsoldwithout family history, as a preventive measure to breast and/or ovary cancer.
• Women with a family history of breast cancer (male or female) and/or ovary cancer.
• Relative carrier of a mutation in BRCA1 or BRCA2.
• Patients suffering from this type of tumor, in order to determine theirpossible hereditary profile.

Tecnologia

Next generation sequencing (NGS) and  Multiple Ligation Probe Amplification (MLPA)

Vantagens

SYNLAB GROUP:
• Guaranteed from the experience of the Synlab group, the absolute European leader in laboratory diagnosis.
COMPREHENSIVE:

• Complete genetic study of genes related with hereditary gynaecological cancer and not only of the BRCA1 and BRCA2 genes.
GENETIC COUNSELLING:
• Free genetic counselling available according to each client needs.
BROAD DATABASE:
• The changes found are searched in the most complete and updated databases (Free the data).                                                                                                                
RELIABLE:
• Any pathogenic mutation or mutation of uncertain significance is confirmed from a new DNA extraction followed by Sanger sequencing that also guarantees 100% coverage of all DNA-readable bases.

Informações Extras

DOCUMENTATION – Available on Extranet for clients:
 • Informed Consent.
• Clinical Questionnaire.
PREPARATION:
• Fasting is not necessary for the test.


Tempo de Entrega
11 working days
Tipo de Amostra
10 mL whole blood in EDTA tube

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