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Severe Combined Immunodeficiency - TREC Assay
| 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 |
| Self (patient) Price | $108.90 |
| Institutional Price | $108.90 |
| CPT Codes** | 81599(x1) |
**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.
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
| 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.
|
| 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. |