JAK2 (V617F) Mutation by ddPCR, Qualitative With Reflex to JAK2 Exon 12-Mutation Analysis by PCR

Casandra

Casandra Test Code AR74252Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3016840CPT Codes 81270, 81279

JAK2 (V617F) Mutation by ddPCR, Qualitative With Reflex to JAK2 Exon 12-Mutation Analysis by PCR

Also known as: PV REFLEX

Clinical Use

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Use

This test is used when a diagnosis of polycythemia vera (PV) is suspected. The JAK2 V617F mutation is associated with myeloproliferative neoplasms, and the detection of this mutation can aid in the diagnosis of these conditions. In cases where the JAK2 qualitative result is 'Not Detected', a reflex to JAK2 Exon 12-Mutation Analysis may be performed to further investigate potential mutations.

Special Instructions

This test is approved for use in New York state. If the JAK2 qualitative is reported as 'Not Detected,' JAK2 Exon 12-Mutation Analysis by PCR will be added, and additional charges will apply. The test must be performed in a CLIA-certified laboratory.

Limitations

The test specifically detects the point mutation c.1849G>T (V617F) of the JAK2 gene. Variants in other genes or other JAK2 variants are not detected or reported. Samples with JAK2 V617F mutations below the limit of detection (0.5 percent mutated alleles) are not reported. Results should not be used alone for a diagnosis and must be interpreted in context with other data.

Test Details

New York Approved

Methodology

PCR-based (ddPCR)

Biomarkers

No genes

Gene

V617F Mutation • Mutation • Categorical (e.g., Positive / Negative / Indeterminate)

LOINC Codes

Order Codes

31208-2

Result Codes

43399-5

Result Turnaround Time

3-12 days

Specimen

Whole Blood

Volume

5 mL

Minimum Volume

1 mL

Container

Lavender (EDTA) tube

Patient Preparation

Do not freeze

Causes for Rejection

Plasma, serum, FFPE tissue blocks/slides, or fresh or frozen tissue. Specimens collected in anticoagulants other than EDTA. Clotted or grossly hemolyzed specimens.