Molecular Genetic MPN / MPL JAK2 exon12, MPL & CALR Mutation Analysis - RT-PCR
Test Code
MOG23
Also Known As
No data available
Test Parameters Included
No data available
Department
MOLECULAR GENETICS
Methodology
RT-PCR (Reverse Transcription Polymerase Chain Reaction) / PCR / Sanger Sequencing / High-Resolution Melting (HRM)
This comprehensive panel for Myeloproliferative Neoplasms (MPNs) primarily utilizes PCR (Polymerase Chain Reaction) and often includes Sanger Sequencing for definitive mutation identification. While the prompt mentions RT-PCR, this test directly analyzes DNA extracted from whole blood or bone marrow, not RNA, to detect specific driver mutations. The "RT-PCR" notation might sometimes broadly refer to PCR-based molecular techniques, but the actual analysis is DNA-based. Techniques employed are:
* PCR (Polymerase Chain Reaction): Used to amplify specific regions of the JAK2 (exon 12), MPL (exon 10), and CALR (exon 9) genes where common driver mutations are known to occur.
* Sanger Sequencing: Often used as the gold standard for definitive identification of specific point mutations (e.g., JAK2 exon 12 variants, MPL W515L/K) and for confirming the exact nature of CALR indels.
* Fragment Analysis: For CALR mutations, which are typically small insertions or deletions (indels) in exon 9, fragment analysis (a type of PCR-based method) is often employed to detect changes in fragment size.
* High-Resolution Melting (HRM) Analysis: Some labs may use HRM as a rapid screening tool for the presence of mutations in these genes, with positive results then confirmed by sequencing.
This multi-gene molecular approach offers high sensitivity and specificity for identifying the primary driver mutations in MPNs, which are crucial for accurate diagnosis, classification, prognosis, and treatment planning.
Sample Required
WB/BMA EDTA: Whole Blood (WB) or Bone Marrow Aspirate (BMA) in EDTA Vacutainer
(A sample of whole blood or bone marrow aspirate collected in an EDTA vacutainer is required for this test. EDTA acts as an anticoagulant to preserve the sample for DNA extraction.)
Preparation
No specific preparation is typically required for this genetic test. * No Fasting Required: Fasting is not necessary for this blood or bone marrow sample collection. * No Special Timing: Blood or bone... Read more
Schedule Report
3 Days
Emergency Report
Yes
Frequently Asked Questions
No data available
Test Description
- High-end laboratory & medical equipment.
- Outstanding doctor team.
- Personalized care & high-quality service.
- Tailormade health screening packages.