Alternative Name
IgH Mutation Analysis
Methodology
Molecular
Test Description

The IgH Clonality/MRD by NGS assay detects clonal populations of B-lymphocytes in a given patient sample through the analysis of the VDJ segment of the immunoglobulin heavy chain (IgH) gene. *Note - Baseline testing of the original primary sample will need to be performed prior to testing on new samples submitted for monitoring of minimal residual disease.

Clinical Significance

The IgH Clonality/MRD by NGS test is designed to detect clonal populations of B-lymphocytes in a given patient sample through the analysis of the VDJ segment of the immunoglobulin heavy chain (IgH) gene. Detecting the presence of clonal B-lymphocyte populations is important for the diagnosis of B-cell lymphoma or leukemia. Additionally, this test provides important information on somatic hypermutations in the neoplastic clone as well as tumor heterogeneity. The presence of more than one clone or subclones within the B-cell lymphoma/leukemia cells can also be determined by this assay.

The IgH Clonality/MRD by NGS test is specifically offered for monitoring patients with B-cell lymphoma/leukemia and for predicting minimal residual disease due to its high sensitivity and its quantitative nature. For proper MRD measurement, establishing the type of baseline clone(s) by testing a baseline sample is required. Furthermore, testing of cell-free DNA (cfDNA) in peripheral blood (liquid biopsy) using this technology has been reported to be reliable in monitoring patients with diffuse large B-cell lymphoma (DLBCL) and acute lymphoblastic lymphoma (ALL). This test should not be used as a replacement to our routine B-cell gene rearrangement clonality testing and should be reserved for special utilization as stated above.

Specimen Requirements
  • Peripheral blood: 5 mL in EDTA tube
  • Bone marrow: 2 mL in EDTA tube
  • FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
  • Fresh tissue: Two pieces minimum, 0.2 cm3 in RPMI
Storage and Transportation

Refrigerate fresh tissue until shipping. For all specimens, use cold pack for transport. Make sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.

CPT Code(s)*
81263x1
Turnaround Time

10 days

Level of Service
Global

*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.