University of Washington, Department of Laboratory Medicine, Genetics Laboratory

Known Familial Mutation (Single-Site Analysis in a Family Member)

Test Information

This test detects the presence or absence of a specific mutation that is known to be present in member of a patient's family who has been previously tested using the BROCA, ColoSeq or EpiPlex assay. Please refer to BROCA Cancer Risk Panel, ColoSeq - Lynch and Polyposis Panel, or Epileptic Encephalopathy Panel for complete gene sequencing and deletion duplication analysis. For Ashkenazi Jewish patients, testing for three founder mutations is available (BRCAAJ).


The region of the specific mutation in the family is amplified by PCR and sequenced bidirectionally by Sanger sequencing. Large deletions and duplications are tested using multiplex ligation-dependent probe amplification (MLPA).

Requisition Form and Ordering Instructions

  1. Fill out a Clinical Lab Request - Genetics - available at UWMC Genetics Requisition.

  2. Under “Check Test Requested,” check: "Known Mutation".
  3. Enter the gene and specific mutation to be identified in the line provided.
  4. Provide a copy of the family member's test results. If the family member's report is not available, please provide their name and date of birth, in addition to their specific mutation.

Sample Requirments and Specimen Handling

10 mL whole blood in lavender top (EDTA) tube. ACD is also acceptable. Minimum 5 mL.

For additional details regarding specimen collection, handling and transport, see the Laboratory Medicine Online Test Guide for KMU.

CPT Codes and Pricing

Turnaround Time

6 weeks

Reference Range

No mutation detected.

Further Information

For further information:


  1. Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, Nord AS, Mandell JB, Swisher EM, King MC. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. PNAS (2010) 107:12629-33.

  2. Nord AS, Lee M, King MC, Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics. (2011) 12:184.

  3. Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet. (2010) 11:31-46.

genetics/KMU (last modified 2015-05-07 14:34:56)