BRCA+16 GENES - Synlab
INNOVATION EXAMS > ONCOLOGY

BRCA+16 GENES

Prevention of hereditary
gynecological cancer

Why undergoing this examination?

Hereditary gynecological cancer is characterized by its occurrence in individuals under 40 years of age. In women, it accounts for 5-15% of cases of this type of cancer. The origin of this genetic susceptibility often lies in 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 comprehensive information for a broader medical analysis. 

What is this exam?

The BRCA+ test is a patient’s DNA analysis to detect point mutations, small insertions/deletions, and copy number variations (CNVs) in 18 genes. These genes include ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, and TP53, all related to hereditary gynecological cancer. Additionally, in case of a positive CNV result for the BRCA1, BRCA2, and EPCAM genes, confirmation is done through MLPA. 

For whom is it indicated?

  • Women over 30 without prior history, as a preventive measure for breast and/or ovarian cancer; 
  • Women with a family history of breast (male or female) and/or ovarian cancer; 
  • Family members carrying a mutation in BRCA1 or BRCA2; 
  • Patients with this type of tumor, to determine their possible hereditary profile. 

Technology

Next-generation sequencing (NGS). 

BRCA+16 GENES

Prevention of hereditary
gynecological cancer

Advantages 

 

SYNLAB GROUP 

Guaranteed by the experience of the absolute European leader in laboratory diagnostics. 

 

COMPREHENSIVE 

Complete genetic study of genes related to hereditary gynecological cancer. 

 

COMPLETE 
  • Complete genetic study of genes related to hereditary gynecological cancer; 
  • Genetic counseling in cases where it is necessary to assess the implications of the result for the patient and their family; 
  • Any pathogenic or uncertain significance mutation is confirmed through a new DNA extraction followed by Sanger sequencing, ensuring 100% coverage of all DNA bases read. 

 

Extra Information 

 

DOCUMENTATION – Available on the SYNLAB Direct for clients 
  • Informed Consent; 
  • Clinical Questionnaire; 
  • Medical Request. 

 

PREPARATION 
  • Fasting is not necessary for the test.

 

Additional Information 

Check below the list of genes analyzed in BRCA+16 GENES: 

 

*Confirmation by MLPA in case of CNV detection. 

Delivery Time 

15 business days 

Sample Type 

8mL of total blood in EDTA 

Or

Oragene OG510 Saliva

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