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HelpTest Code BCLL IGH Somatic Hypermutation Analysis, B-Cell Chronic Lymphocytic Leukemia (B-CLL), Varies
Useful For
Providing prognostic information in patients with newly diagnosed B-cell chronic lymphocytic leukemia
This test is not intended for use in providing prognostic information for patient with other B-cell neoplasms or hematopoietic tumors.
Special Instructions
Reporting Name
IGH Somatic Hypermutation in B-CLLSpecimen Type
VariesShipping Instructions
1. Both refrigerated and ambient specimens must arrive within 7 days of collection.
2. Collect and package specimen as close to shipping time as possible.
Necessary Information
1. Molecular Hematopathology Patient Information is required.. Testing may proceed without the patient information; however, it aids in providing a more thorough interpretation. Ordering providers are strongly encouraged to fill out the form and send with the specimen.
2. If form is not provided, include the following information with the test request: specimen source, pertinent clinical history (ie, complete blood cell count results and relevant clinical notes), and clinical or morphologic suspicion.
Specimen Required
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 4 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
3. Label specimen as blood.
Specimen Stability: Refrigerated/Ambient
Specimen Type: Bone marrow
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 2 mL
Collection Instructions:
1. Invert several times to mix bone marrow.
2. Send bone marrow specimen in original tube. Do not aliquot.
3. Label specimen as bone marrow.
Specimen Stability: Refrigerated/Ambient
Specimen Type: Extracted DNA from blood or bone marrow
Container/Tube: 1.5- to 2-mL screw-top tube
Specimen Volume: Entire specimen
Collection Instructions:
1. Label specimen as extracted DNA and indicate specimen source (blood or bone marrow).
2. The required volume of DNA is 50 mcL at a concentration of 20 ng/mcL.
3. Include volume and concentration on tube.
Specimen Stability: Frozen (preferred)/Refrigerated
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | 7 days |
Reject Due To
| Gross hemolysis | Reject |
| Moderately to severely clotted | Reject |
Reference Values
An interpretive report will be provided.
Method Description
DNA is extracted from whole blood or bone marrow specimens, and IGH gene rearrangements are amplified by polymerase chain reaction (PCR) using indexed leader and/or framework region 1 (FR1) forward primers. The amplified product is then purified, and the DNA concentration measured. Pooled patient samples (identifiable by the index bar codes) are subjected to next-generation sequencing. FASTQC sequence data is subsequently analyzed using proprietary software to identify the IGH V rearrangement and the unique sequence. Results are compared to a germline IGHV sequence database by the software to calculate the percent identity of the tumor IGH V rearrangement to the closest germline sequence. Rearrangements containing a variation frequency of greater than 2% are interpreted as mutated. Rearrangements containing a variation frequency less than or equal to 2% are interpreted as unmutated.(Unpublished Mayo method)
Day(s) Performed
Monday, Wednesday, Friday
Report Available
14 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US 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 | 50627-9 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 39465 | BCLL Result | No LOINC Needed |
| MP005 | Specimen Type | 31208-2 |
| 19674 | Final Diagnosis | 50398-7 |
Method Name
Polymerase Chain Reaction (PCR) and Next-Generation Sequencing (NGS)
Secondary ID
89008Specimen Minimum Volume
Blood/Bone marrow: 1 mL
Extracted DNA: see Specimen Required
Forms
1. Molecular Hematopathology Patient Information is required.
2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.