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BRCA1 & BRCA2 gene analysis (Germline)

Test Name

BRCA1 & BRCA2 gene analysis (Germline)

Home Collection, Lab Visit

Test Code

GEN0357_ONCO

Test Components/ Genes/ Parameters

BRCA1 & BRCA2

Sample Report

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Test Information

TAT DETAILS

21Days

PRE-TEST INSTRUCTIONS

Submit formalin fixed paraffin embedded Tissue Block. Ship at room temperature OR 4 mL (2 mL min.) Whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. Duly filled BRCA 1 & 2 informed consent form for hereditary testing (Form 24) is mandatory.

CLINICAL UTILITY

This assay detects most of the mutations and insertions/deletions in the BRCA gene which is linked to breast/ovarian cancer. Using the MH guide & Geneyx analysis software, this assay predicts the response of drugs such as PARP inhibitors and helps to tailor the therapy. PARP inhibition results in selective killing of cancer cells which have lost BRCA1 or BRCA2 function.

SPECIMEN STABILITY

Transport at ambient (18-25°C) temperature

METHODOLOGY

NGS

STORAGE TEMPERATURE

NA

SPECIMEN TYPE

Whole blood – EDTA vacutainer Dry – DBS card Amniotic Fluid – Sterile 15 ml Falcon tube Corionic Villus Sample – Sterile 15 ml Falcon tube with nutrient medium (provided by LifeCell) DNA – 1.5ml sterile cryotube”

Frequently Asked Questions

BRCA1 & BRCA2 gene analysis (Germline)
This assay detects most of the mutations and insertions/deletions in the BRCA gene which is linked to breast/ovarian cancer. Using the MH guide & Geneyx analysis software, this assay predicts the response of drugs such as PARP inhibitors and helps to tailor the therapy. PARP inhibition results in selective killing of cancer cells which have lost BRCA1 or BRCA2 function.
The patient should carry the FFPE tissue or block of the effected Breast. This process is carried out by Breast Surgeon in the hospital
The test is recommended when there is a family history of Breast & Prostate Cancer
The test is performed with the Next generation sequencing technique
There is no risk associated with the test as biopsy will be taken by the trained surgeon in the hospital under anasthesia
Result is reported as Pathogenic/No pathogenic or likely pathogenic variants causative of the reported phenotype were identified. Correlation with clinical profile and family history is required