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Kit Mutation (Exon 8,17) for AML

Kit Mutation (Exon 8, 17) for AML

Test Codes

EPIC: LAB1231593, Beaker: XCKAG, MLAB: KTAML

Department

Send Outs

Instructions

Specimen Collection Criteria

Collect (preferred specimen): Blood or bone marrow in one Lavender-top EDTA tube. (Minimum: 0.5 mL)

Invert several times to mix blood or bone marrow.

Physician Office/Draw Specimen Preparation

Do not centrifuge. Maintain specimen in original collection tube, room temperature (20-26°C or 68-78.8°F) prior to transport.

Preparation for Courier Transport

Transport: 5.0 mL Blood or 3.0 mL bone marrow, room temperature (20-26°C or 68-78.8°F) in original collection tube. (Minimum: 0.5 mL)

Rejection Criteria

• Grossly hemolyzed specimen.
• Specimens not collected and processed as indicated.

In-Lab Processing

Do not centrifuge. Maintain specimen in original collection tube, room temperature (20-26°C or 68-78.8°F) prior to transport.

Transport: 3.0 mL Blood or 2.0 mL bone marrow, room temperature (20-26°C or 68-78.8°F) in original collection tube. (Minimum: 0.5 mL)

Storage

Specimen Stability for Testing:

Room temperature (20-26°C or 68-78.8°F): 48 hours
Refrigerated (2-8°C or 36-46°F): 48 hours
Frozen (-20°C/-4°F or below): Unacceptable

Specimen Storage in Department Prior to Disposal:

Specimen retention time is determined by the policy of the reference laboratory. Contact the Send Outs Laboratory with any questions.

Laboratory

Sent to MLabs Ann Arbor, MI.

Performed

Monday – Friday.
Results available in 5-8 days.

Reference Range

By report.

Test Methodology

Polymerase Chain Reaction (PCR) followed by DNA sequence analysis.

Clinical Utility

KIT gene mutations occur in approximately 25% of cases of acute myeloid leukemia (AML) with t(8;21) or inv(16), also referred to as core-binding factor AML. These mutations are predominately small length affecting mutations in KIT exon 8 and substitution mutations in KIT exon 17. KIT mutations in core-binding factor AML may be an adverse prognostic factor in this otherwise favorable-risk disease. This DNA sequencing test detects mutations in exons 8 and 17 of the KIT gene in blood and bone marrow specimens. This test will detect mutations in specimens when at least 30% of the nucleated cells carry the mutation.

CPT Codes

81272

Contacts

Last Updated

9/19/2024