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IgVH Mutation Analysis
- Molecular
This test uses RT-PCR and bi-directional sequencing of the variable region of the immunoglobulin heavy chain to detect mutations from the germline sequence. Positive reports identify the mutated VH gene family when there is >2% sequence deviation. Mutation may not be detectable in specimens with low tumor burden or high background signal.
Clinical Significance
Immunoglobulin heavy chain gene variable region (IgVH) somatic mutation status provides important prognostic information for patients with chronic lymphocytic leukemia (CLL), small lymphocytic lymphoma (SLL), and mantle cell lymphoma (MCL).
In studies, median survival for patients with CLL/SLL unmutated IgHV region gene was 6-9 years whereas median survival for patients with hypermutated IgHV region was 13-24 years. Mutated MCL patients have a better outcome compared to unmutated IGHV patients, with 5-year overall survival (OS) of 59% and 40%, respectively.
Specimen Requirements
Bone Marrow Aspirate: 2 mL in EDTA tube.
Peripheral Blood: 5 mL in EDTA tube.
Note: Sodium Heparin tubes are acceptable.
Note: Test is RNA-based. Please select Extract & Hold - RNA If specimen hold service is desired.
Storage and Transportation
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible. NYS clients please provide date and time of Collection. Please select Extract & Hold - RNA if specimen hold service is desired.
CPT Code(s)*
81263
*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.
Last Updated: August 27, 2025