abcdefghijklmn
opqrstuvwxyz
Test Menu
Test Change Details
Allergy & Immunology
Cardiology & Coagulation
Dermatopathology
Endocrinology
Gastroenterology
Genetics
Hepatology
Infectious Disease
Microbiology
Nephrology
Neurology
Oncology
Pathology
Pediatrics
Rheumatology
Toxicology
Urology
Women's Health
91772: KIT D816, Mutation Analysis (Mastocytosis) Print View
Specimen Source:      
Block/Specimen ID:      
Clinical Indication      
KIT D816 Mutation   Not detected   
Interpretation      

PRIMARY
1 Whole Blood EDTA 5 (2) mL   Room Temperature - 7 Day(s)/Refrigerated - 7 Day(s)  
ALTERNATE
  Bone Marrow EDTA   Refrigerated - 7 Day(s)/Room Temperature - 7 Day(s)  
  Whole Blood Heparin 5 (2) mL   Room Temperature - 7 Day(s)/Refrigerated - 7 Day(s)  
  Whole Blood ACD 5 (2) mL   Refrigerated - 7 Day(s)/Room Temperature - 7 Day(s)  

Point mutation of the KIT oncogene at codon 816 (D816V) is seen in >90% of systemic mastocytosis (SM) cases. The presence of KIT D816V mutation is one of the minor criteria for diagnosis of SM and mutation testing can assist in diagnosis, particularly in limited specimens. KIT D816 mutations, including D816V, D816H and D816Y, are also the most common KIT mutations seen in the core-binding factor acute myeloid leukemia (AML). In both t(8;21) and inv(16)/t(16;16) AML, cases with KIT D816 mutation are associated with worse outcomes than mutated cases. This PCR-based NDA pyrosequencing assay sensitively detects the KIT D816V mutation down to 2%. If KIT mutation testing of gastrointestinal stromal tumor (GIST) or melanoma is needed, test code 19961 should be used instead, which test for exons 8, 9, 11, 13 and 17 of the KIT gene by Sanger sequencing.

Preferred: 5 mL (2 mL minimum) whole blood collected in an EDTA
(lavender-top) tube.

Acceptable: Whole blood collected in a sodium heparin (green-top) or
ACD-B (yellow-top) tube. 2 mL (0.5 mL minimum) bone marrow aspirate
collected in an EDTA (lavender-top) tube. Formalin-fixed, paraffin-
embedded tissue block. Slide: 10 slides tissue submitted in a slide
holder.
Setup Schedule
Sunday-Saturday

Reported (Analytical Time)
5 days

CPT Code
81402

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Notes
Methodology: DNA Sequencing Reject Criteria: Received Frozen Transport Temperature: Room temperature **This is not available for New York testing.**






1996 - 2017 Quest Diagnostics Nichols Institute of Valencia
For test information, please call Client Services at 800-421-4449.

San Francisco Web Design & Database