JAK2 (V617F) Mutation by ddPCR, Qualitative With Reflex to CALR (Calreticulin) Exon 9 Mutation Analysis by PCR and MPL Mutation Detection

Casandra

Casandra Test Code AR79233Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3016839CPT Code 81270

JAK2 (V617F) Mutation by ddPCR, Qualitative With Reflex to CALR (Calreticulin) Exon 9 Mutation Analysis by PCR and MPL Mutation Detection

Also known as: ETPMFRFX

Clinical Use

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Use

This test is used when a diagnosis of essential thrombocythemia (ET) or primary myelofibrosis (PMF) is suspected. The JAK2 V617F mutation is a common somatic mutation in patients with myeloproliferative neoplasms, and its presence can aid in the diagnosis and management of these conditions. In cases where the JAK2 mutation is not detected, reflex testing for CALR Exon 9 and MPL mutations is performed to further investigate potential myeloproliferative neoplasms.

Special Instructions

If JAK2 qualitative is reported as 'Not Detected,' then CALR Exon 9 Mutation Analysis by PCR and MPL Mutation Detection will be added. Additional charges apply for the reflex testing.

Limitations

This test only detects the JAK2 V617F (c.1849G>T) mutation. Variants in genes other than JAK2 are not detected, and JAK2 variants other than V617F are not reported. Samples with JAK2 V617F mutations below the limit of detection (0.5% mutated alleles) are not reported. Results must always be interpreted in context of other clinical information and should not be used alone for diagnosis.

Test Details

New York Approved

Methodology

PCR-based (ddPCR)

Biomarkers

2 components

JAK2 V617F Mutation Analysis • ddPCRReflex to CALR and MPL Mutation Analysis • ddPCR

LOINC Codes

Order Codes

31208-2

Result Codes

43399-5

Result Turnaround Time

3-15 days

Specimen

Whole Blood

Volume

5 mL

Minimum Volume

1 mL

Container

lavender (EDTA)

Storage Instructions

Refrigerated

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.