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Test Code SOFT: Z1000 T-Cell Receptor Gene Rearrangement, PCR, Varies

Additional Codes

Ordering MnemonicMayo Test ID
HOM: MISC LABTCGRV

Reporting Name

T Cell Receptor Gene Rearrange, V

Useful For

Determining whether a T-cell population is polyclonal or monoclonal using body fluid or tissue specimens

Method Name

Polymerase Chain Reaction (PCR)

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Varies


Shipping Instructions


Body fluid or spinal fluid specimens must arrive within 4 days of collection.



Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Body fluid

Container/Tube: Sterile container

Specimen Volume: At least 5 mL

Collection Instructions:

1. If the volume is large, pellet cells prior to sending.

2. Send less volume at ambient temperature or as a frozen cell pellet.

Specimen Stability Information:

Body fluid: Ambient 4 days/Refrigerated/Frozen

Cell pellet: Frozen

 

Specimen Type: Paraffin-embedded bone marrow aspirate clot

Container/Tube: Paraffin block

Specimen Stability Information: Ambient

 

Specimen Type: Frozen tissue

Container/Tube: Plastic container

Specimen Volume: 100 mg

Collection Instructions: Freeze tissue within 1 hour of collection.

Specimen Stability Information: Frozen

 

Specimen Type: Paraffin-embedded tissue

Container/Tube: Paraffin block

Specimen Stability Information: Ambient

 

Specimen Type: Tissue slides

Container/Tube: Unstained tissue slides

Specimen Volume: 10 slides

Specimen Stability: Ambient

 

Specimen Type: Spinal fluid

Container/Tube: Sterile vial

Specimen Volume: 5 to 10 mL

Specimen Stability Information: Ambient 4 days/Refrigerated

 

Specimen Type: Extracted DNA

Container/Tube: 1.5- to 2-mL tube with indication of volume and concentration of DNA

Specimen Volume: Entire specimen

Collection Instructions:

1. Label specimen as extracted DNA and source of specimen

2. Indicate volume and concentration of DNA on label

Specimen Stability Information: Refrigerated/Ambient


Specimen Minimum Volume

Body fluid or Spinal fluid: 1 mL
Tissue: 50 mg
Extracted DNA: 50 microliters at 20 ng/mcL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

Bone marrow core biopsies
Paraffin shavings
Reject

Reference Values

An interpretive report will be provided.

Positive, negative, or indeterminate for a clonal T-cell population

Day(s) Performed

Monday through Friday

CPT Code Information

81340-TCB (T cell antigen receptor, beta) (eg, leukemia and lymphoma), gene rearrangement analysis to detect abnormal clonal population(s), using amplification methodology (eg, PCR)

81342-TCG (T cell receptor, gamma) (eg, leukemia and lymphoma), gene rearrangement analysis, evaluation to detect abnormal clonal population(s)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
TCGRV T Cell Receptor Gene Rearrange, V In Process

 

Result ID Test Result Name Result LOINC Value
19936 Final Diagnosis: 22637-3
MP016 Specimen: 31208-2
608953 Signing Pathologist 19139-5

Test Classification

This test was developed using an analyte specific reagent. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

Clinical Information

The T-cell receptor (TCR) genes (alpha, beta, delta, and gamma) are comprised of numerous, discontinuous coding segments that somatically rearrange to produce heterodimeric cell surface TCR, either alpha/beta (90%-95% of T cells) or gamma/delta (5%-10% of T cells). With rare exceptions (eg, some neoplastic B-lymphoid proliferations), other cell types retain the germline configuration of the TCR genes without rearrangement.

 

The marked diversity of somatic TCR-gene rearrangements is important for normal immune functions but also serves as a valuable marker to distinguish abnormal T-cell proliferations from reactive processes. A monoclonal expansion of a T-cell population will result in the predominance of a single TCR-gene rearrangement pattern. In contrast, reactive T-cell expansions are polyclonal (or multiclonal), with no single clonotypic population predominating in the population of T cells. These distributive differences in both TCR sequence and genomic rearrangement fragment sizes can be detected by molecular techniques (ie, polymerase chain reaction) and used to determine if a population of T cells shows monoclonal or polyclonal features.

Interpretation

An interpretive report will be provided.

 

Results will be characterized as positive, negative, or indeterminate for a clonal T-cell population.

 

In the appropriate clinicopathologic setting, a monoclonal result is associated with a neoplastic proliferation of T cells (see Cautions).

Cautions

To determine the significance of the result, it must always be interpreted in the context of other clinicopathologic information.

 

The interpretation of the presence or absence of a predominant T-cell receptor (TCR)-gene rearrangement profile is sometimes subjective.

 

The detection of a clonal TCR-gene rearrangement by this test is not necessarily synonymous with the presence of a T-cell neoplasm. False-positive results can occur because of the sensitivity of polymerase chain reaction (PCR) technique and the problem of nonuniform (skewed) amplification of target T-cell gene rearrangements. The latter problem can occur when the total T-cell number in a sample is limited, or because of physiologic skewing of the T-cell repertoire as seen with aging, posttransplantation, or T-cell reactions in autoimmune or (nonlymphoid) malignancies. False-negative results can occur for many reasons, including tissue sampling, poor amplification, or failure to detect a small minority of T-cell gene segment rearrangements with the use of consensus PCR primers. In some cases, an indeterminate or equivocal result will occur because the pattern of gene rearrangements is abnormal (compared to typical polyclonal T-cell processes), but not definitive, for a monoclonal T-cell population. In these situations, distinction of a small monoclonal subpopulation from an over-represented, but reactive, population may not be possible.

Clinical Reference

1. Liu H, Bench AJ, Bacon CM, et al: A practical strategy for the routine use of BIOMED-2 PCR assays for detection of B- and T-cell clonality in diagnostic haematopathology. Br J Haematol. 2007 Jul;138(1):31-43

2. van Krieken JHJM, Langerak AW, Macintyre EA, et al: Improved reliability of lymphoma diagnostics via PCR-based clonality testing: report of the BIOMED-2 Concerted Action BHM4-CT98-3936. Leukemia. 2007 Feb;21(2):201-206

3. Bruggermann M, White H, Gaulard P, et al: Powerful strategy for polymerase chain reaction-based clonality assessment in T-cell malignancies Report of the BIOMED-2 Concerted Action BHM4 CT98-3936. Leukemia. 2007 Feb;21(2):215-221

4. Langerak AW, Groenen PJTA, Bruggemann M, et al: EuroClonality/BIOMED-2 guidelines for interpretation and reporting of Ig/TCR clonality testing in suspected lymphoproliferations. Leukemia. 2012 Oct;26(10):2159-2171. doi: 10.1038/leu.2012.246

5. Davies K, Staniforth J, Haowei Xie, W, et al: Advances in the assessment of T-cell clonality. Diagn Histopathol. 2020 Sept;26(9):388-397

Method Description

Genomic DNA is extracted from the tissue source. T-cell receptor beta (TCRB) and T-cell receptor gamma (TCRG) loci (official designations TRB and TRG, respectfully) are amplified by polymerase chain reaction (PCR) using a multiplex primer method based on the BIOMED-2 strategy. Specific primers are labeled with fluorochrome dyes, permitting precise fragment sizing of PCR products by capillary gel electrophoresis using a genetic analyzer. Each amplified locus is assessed for gene rearrangement patterns and an overall interpretation of the assay is made with regards to the presence or absence of a monoclonal population.(Unpublished Mayo method)

Report Available

7 to 14 days

Specimen Retention Time

Extracted DNA: 3 months

Forms

1. Hematopathology Patient Information (T676)

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

Secondary ID

31140