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
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.
New York Approved
Methodology
PCR-based (ddPCR)
Biomarkers
LOINC Codes
- 31208-2
- 43399-5
Result Turnaround Time
3-15 days
Related Documents
For more information, please review the documents below
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.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 7 days |
| Frozen | Unacceptable |