Severe Combined Immunodeficiency - TREC Assay

Omics test Model
Test Code D0416
Test Summary

This test utilizes T-cell receptor excisioin circle (TREC) to screen for severe combined immunodeficiency (SCID).
Turn Around Time 3 days
Acceptable Sample Types Dried Blood Spots
Acceptable Billing Types Institutional Billing , Self (patient) Payment
NY Approved Yes
CPT Codes** 81599(x1)
*TAT starts after the sample and all required sample information is received at the processing laboratory.

**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.
This test is not available in your region Japan, please select your nearest laboratory to request more information.
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Test Inquiry
Test Code: D0416
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General Biochemical and Molecular Requisition Form

Test Description

This test screens for severe combined immunodeficiency by evaluating thymic function in individuals with combined primary immunodeficiencies using real-time quantitative PCR.

Condition Description

Severe combined immunodeficiency (SCID) is a group of rare disorders with pathogenic mutations in different genes involved in the development and function of infection-fighting immune cells. Infants with SCID appear healthy at birth but are highly susceptible to severe infections. Infants with SCID require life-saving treatments. There are several forms of SCID including X-linked and recessive inheritance.

Test Methods and Limitations

Tandem mass spectrometry analysis can be coupled with liquid chromatography, a technique referred to as LC-MS/MS. In this methodology, chromatography is used to separate analytes of interest prior to measurement by the mass spectrometer. This separation reduces interference from matrix components and can also allow for the measurement of analytes that have the same mass (isobaric species), thereby improving analytical specificity compared to MS/MS.

Detailed Sample Requirements

Dried Blood Spots
Test Details Page
Collection Container(s) Dried blood spot card
Collection

Follow kit instructions. Briefly, allow blood to saturate the card until indicated areas are filled and blood has soaked through the card. Air dry the card at ambient temperature for at least 3 hours.

  • NBS: Please contact Revvity Omics to request the StepOne® kit.
  • Gene Sequencing: Please contact Revvity Omics to request the DBS collection kit.
  • For pre-punched DBS: The required minimum is 6 punches
Sample Condition Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer.
Shipping Follow kit instructions. Double bag and ship overnight at ambient temperature.

Resources

General Biochemical and Molecular Requisition Form