Is BRCA genetic testing done with next-generation sequencing?

A laboratory can use next-generation sequencing to read selected regions of BRCA1 and BRCA2 and look for small DNA changes. A broader panel may examine additional genes when personal or family history suggests a wider hereditary cancer assessment.

Some gene changes involve larger missing or repeated sections. Laboratories may add a separate deletion-and-duplication method, or another confirmation step, so a test that includes sequencing is not necessarily sequencing alone. The report should state what was examined and which methods were used.

Genetic counselling can help decide whether testing is appropriate and whether a focused BRCA test or a multigene panel fits your history. Ask how a positive, negative or uncertain result would affect care. When the report arrives, review its variant classification and test limitations with a qualified clinician rather than interpreting a result from the gene name alone.

Testing itself is usually a planned appointment, but do not delay assessment of a new breast lump, unexplained bleeding, persistent abdominal symptoms or other concerning change while waiting for genetic results. Seek urgent help for severe pain, fainting, heavy bleeding or trouble breathing.

Ask whether the test uses sequencing, deletion-and-duplication analysis or both; which genes are included; how uncertain findings are handled; and whether a relative's known variant changes the test choice.