University of Washington, Department of Laboratory Medicine, Genetics Laboratory
Known Familial Mutation (Single-Site Analysis in a Family Member)
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
Fill out a Clinical Lab Request - Genetics - available at UWMC Genetics Requisition.
- Under “Check Test Requested,” check: "Known Mutation".
- Enter the gene and specific mutation to be identified in the line provided.
- 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.
- Ship specimen at room temperature for overnight delivery. Specimen can be held for up to 7 days before shipping if refrigerated.
Ship specimens to:
- UW MEDICAL CENTER
- LABORATORY MEDICINE - GENETICS LAB
- 1959 NE PACIFIC ST, ROOM NW220
- SEATTLE, WA 98195-7110
For additional details regarding specimen collection, handling and transport, see the Laboratory Medicine Online Test Guide for KMU.
CPT Codes and Pricing
- For pricing please contact 1-800-256-0893
No mutation detected.
For further information:
Other tests offered by the Genetics and Solid Tumor Diagnostic Laboratory
- Lab telephone: (206) 598-6429
- Supervisor: Bob Livingston, Ph.D.
- Director: Colin C. Pritchard, M.D., PhD.
- Director: Karen Stephens, Ph.D.
- Director: Jonathan Tait, M.D., Ph.D.
- Genetic counselor: Angela Jacobson, M.S., L.G.C.
- Genetic counselor: Lauren Thomas Garrett, M.S., L.G.C.
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.
Nord AS, Lee M, King MC, Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics. (2011) 12:184.
Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet. (2010) 11:31-46.