• Test Code:
  • Department:
  • Test Synonyms:
    Sequencing for Known MutationsFamilial MutationFamilial Variant
  • CPT Code(s):
    81479(Misc Gene)81202(APC)81215(BRCA1)81217(BRCA2)81221(CFTR)81253(GJB2)81303(MECP2)81293(MLH1)81296(MSH2)81299(MSH6)81326(PMP22)81322(PTEN)81403(SMN1)

In cases of known familial mutations in specific genes, our laboratory will perform targeted mutation analysis.


Direct Sanger sequencing will be performed based on the specific mutation.

Specimen Requirements:

Blood: EDTA or ACD (solution A or B)

  • Adult: 8.5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

Saliva: 2 ORAgene Saliva Kits (ORG-500)

Skin Fibroblast: Punch Biopsy, or 2 T-25 confluent flasks


  • Direct Amniotic Fluid (10-20mL)
  • Direct CVS
  • Cultured Amnio or CVS (2-T25 flasks)

DNA: 1-2µg at a minimum of 100ng/µL(DNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS)

Notice Regarding Molecular Genetic Testing on CVS or Amniotic Fluid Specimens:

  • Maternal cell rule-out testing will be performed on all prenatal specimens received.Please provide maternal blood in addition to the fetal specimen.Additional charges apply for the maternal cell rule-out test.
  • All genetic testing performed on Direct CVS or Direct Amniotic Fluid specimens will be confirmed on cell cultures prepared by Knight Diagnostic Laboratories.Cell cultures will be prepared from the specimen received.Additional charges apply for confirmatory testing.

For routine testing of blood, saliva and buccal swabs, KDL does NOT accept samples from patients within two (2) weeks of a packed cell/platelet transfusion or within four (4) weeks of a whole blood transfusion.  For extraordinary circumstances, where testing must be performed outside of the above windows, please contact our lab.

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):


Turn Around Time:

14 - 21 Days

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.


Additional Info:

Please note on the requisition form the specific mutation(s) for which testing is requested; also note other family members tested in our laboratory and report numbers if known.  If testing was performed on the proband (affected family member) outside of our laboratory, please include a copy of that clinical report.

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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