KIT Mutation Analysis

KIT Mutation Analysis
WSLH Department: Cytogenetics
WSLH Test Code:895M63
CPT Code:81272
Includes:This assay will detect pathogenic variants in KIT exoms 8 and 17 in AML cells.
Methodology:Exon 8 mutations are detected and characterized by a combination of PCR amplification, fragment analysis, and direct sequencing of the coding region and intron-exon junctions of exon 8. Exon 17 mutations are detected by PCR amplification and direct sequencing of the coding region and intron-exon junctions of exon 17. This test was developed and its performance characteristics determined by Blood Center of Wisconsin. Interpretive comments are provided by UW Cytogenetic Services and Molecular Diagnostics.
Availability:Monday-Friday 7:45 AM - 4:30 PM, Saturday 7:45 AM - 12:00 PM
Turn-around Time:Approximately 10-14 days. (Reports are issued Monday-Friday 7:45 AM - 4:30 PM)
Recommended Uses:Risk stratification in patients with core binding factor AML(CBF-AML).
Specimen Requirements:**10 mL whole blood collected in EDTA (purple top) tube
**2-5 mL bone marrow collected in EDTA tube
**High Quality DNA (60ul) >= 1.5 ug at 25 ng/ul

Isolated nucleic acids are only accepted from a CLIA-certified laboratory or a laboratory meeting equivalent requirements.
Collection Kit/Container: 
Patient Preparation: 
Collection Instructions:Draw blood using aseptic techniques into a sterile EDTA vacuum type tube(s). Invert tube(s) to mix. If using larger tubes, draw to full volume to avoid over-treatment with anticoagulant.
Specimen Handling and Transport:Store and transport specimens at room temperature (may transport with coolant during hot, >85 degrees, weather). DO NOT FREEZE. Specimens must be received by the laboratory within 24-48 hours of collection.
Unacceptable Conditions:Blood or bone marrow that is clotted or hemolyzed is not acceptable. Blood or bone marrow must not be frozen. Plasma and serum are not acceptable.
Requisition Form:Cytogenetics Lab Neoplasia Diagnosis Form #132
Required Information:Laboratory regulations require the following minimum information to be provided on the requisition form for a specimen to be accepted for testing: Patient name or unique identifier; date and time of collection, patient date of birth and sex, specimen type/site of collection, test request(s), reason for referral, clinician name and UPIN/NPI, and address for reporting results. Please be certain that name/identifier on the form matches that on the specimen label.
Results include:*KIT exon 8 mutation detected/not detected, KIT exon 17 mutation detected/not detected.
*Sequence variants are reported using standard nomenclature.
Limitations:The lower limit of detection of the assay is approximately 20% (allele proportion). The assay is expected to detect >99% of KIT variants present in the coding and junctional regions at a level of approximately 20% or greater. Specificity is expected to be >99%.
Additional Tests Recommended:*AML FISH panel, Chromosome analysis- Bone Marrow for Hematologic Disorders,
Chromosome analysis- Unstimulated Blood for Hematologic Disorders
Additional Comments: 
Additional Tests Performed: 

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