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Test of Severe Combined Immunodeficiency (SCID, XLA, SMA)

Omics test Model
Test Code SU
Test Summary Test for SCID disease and SMA.
Turn Around Time 4 days
Acceptable Sample Types Dried Blood Spots
NY Approved No
*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 United States, please select your nearest laboratory to request more information.
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Test Description

This test can detect T cell receptor excision ring (TREC), Kappa deletion recombination excision ring (KREC), homozygous deletion of exon 7 of SMN1 gene.

Indications for Testing

Newborn screening.

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.
Spinal Muscular Atrophy (SMA) is a group of hereditary diseases that progressively destroys motor neurons. It is one of the most common lethal recessive genetic disorders, and has an incidence of approximately 1/10,000 live births, and an estimated carrier frequency of approximately 1 in 57.
Primary immunodeficiency disorder (PID), X-linked agammaglobulinemia (XLA), commonly caused by a mutation or deletion in the BTK gene which prevents the normal development of B lymphocytes and that results in a severe antibody deficiency, is being considered as a condition. Early diagnosis of PID patients facilitate early treatments, such as stem cell transplantation for SCID or immunoglobulin infusion therapy for XLA, which result in better outcomes.

Test Methods and Limitations

Revvity has developed a multiplex real-time PCR assay to allow the screening of infants with severe forms of PID manifested by T and B cell lymphopenia and identify the absence of exon 7 in the SMN1 gene, which is present in approximately 96% of patients with SMA. The assay amplifies four targets in a single PCR reaction; T-cell receptor excision circles (TREC), as a marker of SCID, Kappa-deleting recombination excision circles (KREC), as a marker of XLA, the exon 7 of the SMN1/2 genes, and the RNase P (RPP30) gene, which is used as an internal control and to evaluate the quantity and quality of the DNA extracted from the 3.2 mm punches.

Detailed Sample Requirements

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

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.