This test detects the presence or absence of a specific familial variant that was previously detected using the BROCA, ColoSeq™, or Megalencephaly panels. The specific mutation should be written on the requisition. See BROCA Cancer Risk Panel BROCA Cancer Risk Panel [BROCA], ColoSeq - Lynch and Polyposis Panel ColoSeq - Lynch and Polyposis Panel [COSEQ], and Megalencephaly Panel Megalencephaly Panel [MEGPX] for the full list of genes. Testing for familial variants detected through testing of retired panels, Immunoplex, EpiPlex™ or MarrowSeq™, is available; please contact the laboratory prior to sending a sample.
NOTE: If requesting testing for a known mutation based on testing from an outside laboratory, an order for a Single Gene Analysis Single Gene Analysis [SGN] is required.
Requisition Form and Ordering Instructions:
Genetics Preauthorization Form (preauthorization is only done for providers who are external to the UW system).
Code | Name |
---|---|
KMUGS | Known Mutation Gene Analyzed |
KMURE | Known Mutation Result |
KMUIN | Known Mutation Interpretation |
KMUCH | Known Mutation Clin History |
KMUMT | Known Mutation Methods |
Targeted DNA Sequencing or Next Generation Sequencing
For DNA sequencing the region of the specific mutation in the family is amplified by PCR and sequenced bidirectionally by Sanger sequencing. Large deletions and duplications and some smaller variants are tested using Next Generation Sequencing. See methods descriptions for BROCA, ColoSeq™, EpiPlex™, MarrowSeq™, Megalencephaly or Immunoplex™ panels.
No mutations detected
BLOOD:
SALIVA:
Blood and Saliva are the only acceptable sample types. All other samples, contact the laboratory (genelab@uw.edu) for other testing options.
Requisition Form and Ordering Instructions:
Genetics Preauthorization Form (preauthorization is only done for providers who are external to the UW system).
Ship specimen at room temperature for overnight delivery.
Blood specimens 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
Blood: Refrigerate whole blood
Unacceptable Conditions: Frozen or clotted specimens
Stability (collection to initiation of testing): Ambient: 5 days; Refrigerated: 7 days; Frozen: Unacceptable
Purified DNA: Refrigerate DNA specimens. Frozen is acceptable.
Saliva:
Contact laboratory for validated collection kit.
UW-MT |
Genetics
Attention: Genetics Lab Tel: 206-598–6429 M–F (7:30 AM–4:00 PM) Tel (EXOME only): 206-543-0459 |
Faculty |
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For additional test/billing information, see following page: Known Mutation CPT codes.
For pricing information, contact Client Support Services 206-520-4600 or 800-713-5198.
Billing and Insurance Pre-Authorization
We offer insurance pre-authorization services (preauthorization is only done for providers who are external to the UW system).
Email: gpab@uw.edu or call 1-855-320-4869 for more information.