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
|Self (patient) Price||$108.90|
|CPT Codes**||81599 (x1)|
This test screens for severe combined immunodeficiency by evaluating thymic function in individuals with combined primary immunodeficiencies using real-time quantitative PCR.
This test may be appropriate for an individual with a clinical history suspicious of SCID.
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.
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.
Dried blood spot card
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.