The immunoglobulin variable region heavy chain (IgVH) gene encodes antibodies that function in the immune response. IgVH mutation status identifies two CLL disease subtypes with differing clinical course: indolent and aggressive.
- Patients with hypermutated IgVH have a better prognosis (median survival 293 months).
- Patients without hypermutated IgVH have a poorer prognosis (median survival 11 7 months).
- ~50-70% of patients with CLL have evidence of IgVH somatic mutations.
RNA is reverse transcribed into cDNA and amplified by the polymerase chain reaction (PCR) using primer sets for the IgH gene. PCR products are analyzed by direct DNA sequencing using capillary gel electrophoresis and fluorescence detection. The percentage mutation is assessed by comparison of the VH region sequence to a germline gene sequence database. A sequence that differs from its germline counterpart by >2% is defined as mutated.
Information Sheet - IgVH Mutation Analysis (PDF)
CPT Codes:
83891(1), 83898(1), 83900(1), 83901(12), 83902(1), 83904(1), 83909(1), 83912(1), 83892(2)
Specimen Requirements:
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Peripheral Blood:
- 5-7 ml in EDTA (lavender-top) or sodium heparin (green-top) tube.
- Bone Marrow Aspirate:
- 2-3 ml in EDTA (lavender-top) or sodium heparin (green-top) tube.
Turnaround Time:
10-14 days
Client Services:
Oncology/Pathology
800-447-5816
Specimen Services/Pickup:
877-246-1226