Sign in →

Test Code BCLL IGH Somatic Hypermutation Analysis, B-Cell Chronic Lymphocytic Leukemia (B-CLL)

Useful For

Providing prognostic information in patients with newly diagnosed B-cell chronic lymphocytic leukemia

Reporting Name

IGH Somatic Hypermutation in B-CLL

Specimen Type


Shipping Instructions

1. Specimen must arrive within 3 days (72 hours) of draw.

2. Draw and package specimen as close to shipping time as possible.

Necessary Information

The following information is required:

1. Pertinent clinical history

2. Clinical or morphologic suspicion

3. Date of collection

4. Specimen source

Specimen Required

Submit only 1 of the following specimens:


Specimen Type: Peripheral blood


Preferred: EDTA (lavender top)

Acceptable: ACD (yellow top)

Specimen Volume: 4 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

3. Label specimen as blood.


Specimen Type: Bone marrow


Preferred: EDTA (lavender top)

Acceptable: ACD (yellow top)

Specimen Volume: 2 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Send specimen in original tube.

3. Label specimen as bone marrow.

Specimen Stability Information

Specimen Type Temperature Time
Varies Refrigerated (preferred) 72 hours
  Ambient  72 hours

Clinical Information

During early B-cell development, IGH genes are assembled from multiple polymorphic gene segments that undergo rearrangements and selection, generating VDJ combinations that are unique in both length and sequence for each B cell. In addition, new acquired (somatic) point mutations are introduced into the variable (V) regions of mature B cells during the germinal center reaction in lymph nodes, and this process is called somatic hypermutation (SHM). Since chronic lymphocytic leukemia (CLL) originates from the malignant transformation of single lymphoid cells, each daughter cell shares 1 or (sometimes) more unique "clonal" antigen receptor gene rearrangements, which are cell and, therefore, tumor specific (ie, a tumor cell "fingerprint"). Clonal IGHV gene hypermutation status provides important prognostic information for patients with CLL and small lymphocytic lymphoma (SLL). The presence of IGH SHM is defined as greater than 2% difference from the germline VH gene sequence identity (mutated), whereas less than or equal to 2% difference is considered no SHM (unmutated). The status of SHM has clear influence on the median survival of CLL patients. Hypermutation of the IGH variable region is strongly predictive of a good prognosis, while lack of mutation predicts a poorer prognosis. Although the determination of mutation status can be accomplished by PCR followed by Sanger sequencing, this approach only allows for analysis of single samples at a time. Next-generation sequencing (NGS) technology (eg, using the Illumina MiSeq platform) represents a significant improvement over existing Sanger assays by allowing for batch sample analysis and simultaneous identification of clonal IGH rearrangement, the tumor-specific rearrangement sequence, and determination of somatic mutation percent.

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Wednesday, Friday

Analytic Time

Up to 2 weeks

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81263-IGH (immunoglobulin heavy chain locus) (eg, leukemia and lymphoma, B-cell), variable region somatic mutation analysis

LOINC Code Information

Test ID Test Order Name Order LOINC Value
BCLL IGH Somatic Hypermutation in B-CLL In Process


Result ID Test Result Name Result LOINC Value
39465 BCLL Result In Process
MP005 Specimen Type 31208-2
19674 Final Diagnosis 34574-4

NY State Approved


Method Name

Polymerase Chain Reaction (PCR) and Next-Generation Sequencing

Specimen Minimum Volume

Blood or Bone Marrow: 1 mL


1. Molecular Hematopathology Patient Information: B-Cell Chronic Lymphocytic Leukemia (CLL) for IGVH and/or TP53 Somatic Mutation Testing in Special Instructions

2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request Form (T726) with the specimen (