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Test Code	D0416
Test Summary	This test utilizes T-cell receptor excisoin circle (TREC) to screen for severe combined immunodeficiency.
Turn-Around-Time (TAT)*	3 days
Acceptable Sample Types	Dried Blood Spots
Acceptable Billing Types	Self (patient) Payment Institutional Billing
Self (patient) Price	$108.90
Institutional Price	$108.90
CPT Codes**	81599 (x1)

*TAT starts after the sample and all required sample information is received at PerkinElmer Genomics.

**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.

Test Description

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

Indications For Testing

This test may be appropriate for an individual with a clinical history suspicious of SCID.

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 card until indicated areas are filled and blood has soaked through card. Air dry card at ambient temperature for at least 3 hours.

NBS: Please contact PKIG to request the StepOne^® kit.
Gene Sequencing: Please contact PKIG to request the DBS collection kit.
For pre-punched DBS: The required minimum 6 punches with 3.2 mm or 4 punches 4.75 mm.

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.