Test Name:
KIT D816V Mutation Analysis
CPT Code:
81273
Turn Around Time:
24 – 72 hours
Clinical Application:
Detection of the p.D816V mutation in exon 17 of the KIT gene, associated with Core-binding factor AML and mastocytosis
Diagnosis and monitoring.
Methodology:
Allele specific (AS)PCR, minimum sensitivity: 0.01%
For comprehensive KIT mutation analysis, including exon 17 and exon 8, AML panel mutation analysis (NGS) is recommended.
Specimen Requirements:
DNA-based assays
Peripheral Blood: Minimum 2 mL in EDTA (purple top) preferred or 2 mL in sodium heparin (green top)
Bone Marrow: Minimum 1 mL in EDTA (purple top) preferred or 1 mL in sodium heparin (green top)
Paraffin Sections: Minimum of 5 sections at 3 microns each
Note: FFPE bone marrow biopsies can result in inadequate DNA due to decalcification (clots sections preferable).
FFPE for Dermatology-related specimens are not accepted.
FFPE is not an acceptable sample for NGS-based assays.
Storage and Transportation:
Please store and ship specimens at ambient temperatures.
Please refer to our full specimen requirements at Hematologics/Specimen Requirements for additional information and for directions on the storage and shipping of extracted DNA or RNA.