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BRCA 1 & 2

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BRCA1 & BRCA2 are  genes that produce tumor suppressor proteins & play a role in ensuring the stability of the cell’s genetic material.

Clinical Utility

  • Provide a better measure of the cancer risk .
  • Allow a clinician to tailor cancer screening as needed.
  • Help in choosing surgery or chemotherapy

Key Benefits

  • The reporting will be done as per AMCG (American College of Medical Genetics) guidelines. The guidelines attached for your reference.
  • The test is based on sequencing of all the exons (in both directions) as well as highly conserved intron-exon splice junctions. Hence, the test is able to detect the mutations whether they were reported in the past or not.
  • All the gene mutations clinically related to disease will be reported if they are present in the specific patient sample (as Class 6). As per ACMG guidelines, the polymorphisms or SNPs that are commonly known to be benign are not reported.
  • The report indicates the reference sequence and version number for example NM_007294.3.
  • The report provides the Pubmed ID of the reference (PMID), on which the interpretation was made, in case of pathogenic variations . The references are also cited for specific variation described and the clinician can check this reference easily.
  • Significantly reduce medical costs through earlier diagnosis and treatment of cancer.
  • Knowing the test results may benefit family members as well.