KIT D816 Mutation Analysis (Mastocytosis)

Test Code

91772

CPT Code(s)

81273

CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.

Test Code

91772

CPT Code(s)

81273

CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.

Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.

In-home collection may be available in your area for purchase through Quest Mobile.

Clinical Significance

KIT D816 Mutation Analysis (Mastocytosis) - 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 unmutated cases.
This PCR-based DNA pyrosequencing ...

Test Resources

Test Summary

KIT D816 Mutation Analysis (Mastocytosis)

Test Details

Methodology

Next Generation Sequencing

Assay Category

This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Reference Range(s)

Not detected

LOINC® Codes, Performing Laboratory

Service Area must be determined

Methodology

Next Generation Sequencing

Assay Category

Reference Range(s)

Not detected

LOINC® Codes, Performing Laboratory

Service Area must be determined

Preferred Specimen(s)

5 mL whole blood collected in an EDTA (lavender-top) tube

Alternative Specimen(s)

Whole blood collected in: Sodium heparin (green-top) or ACD-B (yellow-top) tube • 2 mL bone marrow aspirate collected in an EDTA (lavender-top) tube • Formalin-fixed, paraffin-embedded tissue block • 10 slides tissue submitted in a slide holder

Minimum Volume

2 mL whole blood • 0.5 mL bone marrow • 6 slides

Transport Container

EDTA (lavender-top) tube

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable

Reject Criteria

Received frozen

Setup Schedule

Service Area must be determined

Preferred Specimen(s)

5 mL whole blood collected in an EDTA (lavender-top) tube

Alternative Specimen(s)

Minimum Volume

2 mL whole blood • 0.5 mL bone marrow • 6 slides

Transport Container

EDTA (lavender-top) tube

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable

Reject Criteria

Received frozen

Setup Schedule

Service Area must be determined

Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.

In-home collection may be available in your area for purchase through Quest Mobile.

Test Details

Clinical Significance

Test Resources

Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

The CPT codes provided are based on AMA guidance 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.

This material contains content from LOINC® (http://loinc.org). The LOINC Table, LOINC Table Core are copyright © 1995-2019, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license.

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