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Test Code TCGRV T-Cell Receptor Gene Rearrangement, PCR, Varies

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:

 

Preferred:

Specimen Type: Paraffin-embedded tissue

Container/ Tube: Paraffin block

Collection Instructions:

1. Decalcified specimens (eg, bone marrow core biopsies) are not acceptable.

2. Indicate specimen source.

3. Include pathology report.

Specimen Stability Information: Ambient

Additional Information: If the quality of the biopsy specimen is poor, testing should not be ordered. Testing may be canceled if DNA requirements are inadequate.

 

Acceptable:

Specimen Type: Tissue slide

Slides: 20 Unstained slides

Container/Tube: Transport in plastic slide holders

Collection Instructions:

1. Send 20 unstained, nonbaked slides with 5-micron thick sections of tissue.

2. Decalcified specimens (eg, bone marrow core biopsies) are not acceptable.

3. Indicate specimen source.

4. Include pathology report.

Specimen Stability Information: Ambient

Additional Information: Testing may be canceled if resultant extracted DNA does not meet concentration requirements.

 

Specimen Type: Body fluid

Sources: Pleural, peritoneal, vitreous and spinal 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.

3. Specify the type of fluid being submitted.

Specimen Stability Information:

Body fluid: Ambient 4 days/Refrigerated/Frozen

Cell pellet: Frozen

 

Specimen Type: Frozen tissue

Container/Tube: Plastic container

Specimen Volume: 100 mg

Collection Instructions:

1. Freeze tissue within 1 hour of collection.

2. Indicate specimen source.

Specimen Stability Information: Frozen

 

Specimen Type: Extracted DNA

Container/Tube: 1.5- to 2-mL tube

Specimen Volume: Entire specimen

Collection Instructions:

1. DNA must be extracted within 7 days of collection.

2. Label specimen as extracted DNA and source of specimen.

3. Provide volume and concentration of DNA on label.

Specimen Stability Information: Frozen (preferred)/Refrigerated/Ambient

Additional Information: DNA must be extracted in a CLIA-certified laboratory or equivalent and must be extracted from a specimen type listed as acceptable for this test (including applicable anticoagulants). We cannot guarantee that all extraction methods are compatible with this test. If testing fails, one repeat will be attempted, and if unsuccessful, the test will be reported as failed and a charge will be applied.


Specimen Minimum Volume

Body fluid: 1 mL; Frozen tissue: 50 mg; Extracted DNA: 50 microliters (mcL) at 20 ng/mcL; Tissue slides: 10 unstained slides

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reject Due To

Bone marrow core biopsies Reject
Paraffin shavings Reject

Reference Values

An interpretive report will be provided.

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

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

Results will be characterized as positive, negative, or indeterminate for a clonal T-cell population and include an interpretive report.

 

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 due to physiologic skewing of the T-cell repertoire as seen with aging, post-transplantation, 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.

Method Description

Genomic DNA is extracted from the specimen. 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

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.