QUALITATIVE PCR FOR DETECTION OF JAK2(P.V617F) EXON 14 MUTATION

MUTATION TESTED: JAK2 p.V617F

INDICATIONS FOR ORDERING: Diagnostic in cases of myeloproliferative neoplasms (MPNs), polycythemia vera (PV), primary myelofibrosis (PMF), and essential thrombocythemia (ET).

METHOD USED: Real-time qualitative polymerase chain reaction kits provided by 3B Blackbio Biotech India Pvt Ltd for JAK2 mutation

• SPECIMENS – Type, storage and transport
  Type: Non-diluted peripheral blood sample/bone marrow aspirate in an EDTA (lavender) tube. PLEASE AVOID HEPARINATED BLOOD

Bone Marrow: Min. 3mL
Whole Blood: 3 mL

• Transport: Specimens must be received within 48 hours of collection
• Storage: Whole Blood or Bone Marrow. Separate specimens must be submitted when multiple tests are ordered.
• Extracted DNA: Separate specimens must be submitted when multiple tests are ordered.
• Unacceptable samples: Specimens collected in anticoagulants other than EDTA, haemolysed/clotted samples

TEST DESCRIPTION: This is a DNA-based real-time PCR assay. The purified DNA sample is subjected to real time PCR assay using specific primer and probe set for p.V617F mutation in exon 14 of the JAK2 gene.. The assay sensitivity is set at 1% , in order to detect as low as 1% mutant allele burden in a given sample.
In case of no amplification signal for a wild type in biological negative control, a repeat sample is requested in view of any cross contamination.

ANALYTICAL SENSITIVITY: This is a qualitative test, hence yields a positive or a negative result only. However, the kit is calibrated to 1% of mutant allele validated by Horizon Discovery limited, Cambridge.

TURNAROUND TIME: 5 (five) working days from receipt of sample

QUALITY ASSURANCE & COMPETENCY TESTING: Regular internal quality checks and intra-lab comparisons are performed to ensure accurate and precise results. Material Safety Data Sheets (MSDS) may be ordered upon request. Highly trained personnel performing this test undergo regular competency assessments and attend regular conferences and educational programs in order to stay upbeat with the newer advances in the biology and diagnostics of the disease in question.

ACCREDITATION: NABL

NOTE: Kindly note that this test does not yield the copy numbers of the mutation detected and hence is not recommended for monitoring of molecular residual disease.