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Test Identifier Information

 
Registration CodeMONC
Method

Droplet digital PCR using the Bio-Rad PrimePCR ddPCR Mutation Detection Assay for JAK2 p.Val617Phe  [NM_004972.3 (JAK2):c.1849G>T (p.Val617Phe)].  

Limit of Detection: 0.1% mutant copies over total JAK2 gene copies.



Diagnostic Use / Indications
The acquisition of a JAK2 p.Val617Phe mutation within an erythroid/myeloid progenitor is associated with many (but not all) myeloproliferative disorders: polycythaemia vera  (96%), essential thrombocythaemia (60-65%) and primary myelofibrosis (60-65%). 
External Price$92.73(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen4.0mL EDTA whole blood
Paediatric Specimen1 mL EDTA whole blood.
Sample Delivery to LabSend to the laboratory at ambient temp or 4C.
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Oncology
Contact Details Email Email
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Contact Phone Number03 3786 008 / x86008
Test AvailabilityNo restrictions.
Turnaround Time14 days
Reference Interval

Result reported as "Detected" or "Not detected".  If mutation is detected the % mutant load (% mutant copies over total JAK2 gene copies) is reported.

Additional Information

In patients with erythrocytosis and low erythropoietin (typically <5 mIU/ml) consider JAK2 exon 12 mutation analysis.  In patients with essential thrombocythaemia or primary myelofibrosis consider calreticulin and MPL mutation analysis.




 

 

Delphic Number Test Number7708

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