IGHV Mutation Analysis by Sequencing
Also known as: IGHV MUT
Use
This test is designed to detect the mutation status of the immunoglobulin heavy chain variable region (IGHV) gene in clonal B cell populations. Chronic Lymphocytic Leukemia (CLL) patients with non-mutated IGHV genes have a poorer clinical prognosis. Moreover, cases of CLL expressing the IGHV 3-21 variable region gene segment have a poorer prognosis regardless of IGHV mutation status. This assay is useful in determining the risk group in newly diagnosed CLL patients.
Special Instructions
The test is designed for individuals with a confirmed diagnosis of CLL. Specimens must be received within 48 hours of collection due to the lability of RNA. Separate specimens should be submitted when multiple tests are ordered.
Limitations
The test can analyze CLL clones as low as 50% of total B cells. Samples that do not yield an amplification product may either contain too few CLL cells or express VH genes with a high number of mutations that compromise PCR primer binding. This test is not intended to detect minimal residual disease; results should be interpreted alongside the patient's morphology and other relevant data, and not used as a sole means of diagnosing malignancy.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 48670-4
Result Turnaround Time
8-12 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
1 mL
Container
Lavender (EDTA)
Storage Instructions
CRITICAL REFRIGERATED
Causes for Rejection
Serum, plasma, CSF, bone core, or FFPE tissue. Specimens collected in anticoagulants other than EDTA. Severely hemolyzed or clotted specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 1 hour |
| Refrigerated | 48 hours |
| Frozen | Unacceptable |