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BRCA1 & BRCA2 Testing

BRCA1 & BRCA2 Genetic Testing

BRCA1 and BRCA2 testing looks for genetic changes that may be linked to inherited cancer risk. Germline testing is commonly performed using a blood or saliva sample; tumour testing may answer a different clinical question.

Who May Benefit From a Risk Assessment?

Testing may be considered when a person has a relevant personal or family history, a known BRCA1 or BRCA2 variant in the family, or tumour findings that could influence treatment. A clinician or genetic counsellor can review your history and recommend the most appropriate test.

Understanding Results

  • Positive: A pathogenic or likely pathogenic variant was identified. This can inform discussions about cancer risk, screening, treatment, and family testing.
  • Negative: No reportable variant was identified. The meaning depends on personal history, family history, and whether a familial variant is already known.
  • Variant of uncertain significance (VUS): A change was found, but available evidence is not sufficient to classify it as harmful or benign. Medical decisions should not be based on a VUS alone.

Before and After Testing

Pre-test counselling helps clarify the purpose, possible results, limitations, and implications for relatives. Post-test discussion helps place the result in clinical context and identify appropriate next steps.

Testing at Jaipur Molecular Lab

Contact our team to confirm the available panel, accepted sample types, reporting timeline, and counselling options for your clinical situation.

This information is for general education and does not replace medical advice. Test selection and interpretation should be discussed with a qualified clinician or genetic counsellor.