The Food and Drug Administration has approved a screening test for severe combined immunodeficiency in newborns.
It is the first such screening test to receive FDA approval. A laboratory-developed screen has been used over the last several years.
The test approved by the FDA on Dec. 15 – the EnLite neonatal TREC kit – uses a few drops of blood taken from the newborn’s heel, which are then dried on filter paper. The kit determines whether T-cell receptor excision circles (TRECs) DNA is low or missing. According to the FDA, newborns with severe combined immunodeficiency (SCID) typically have zero or low amounts of TREC DNA. The EnLite is just a screen. Additional testing is required for a SCID diagnosis.
Severe combined immunodeficiency is extremely rare. The FDA said there are only 40-100 new cases identified in the United States each year. Babies with SCID usually develop life-threatening infections within a few months, but early detection and treatment can improve survival, the agency said.
In 2010, the secretary of the Department of Health and Human Services added SCID to the national Recommended Uniform Screening Panel for newborns.
According to the Immune Deficiency Foundation , 25 states, Washington, D.C., and the Navajo Nation currently screen for SCID, while 18 states and territories have said they will begin testing soon.
Some states require that their newborn screening program use an FDA-approved or FDA-cleared test, according to the FDA.
The newly approved test “will enable states to incorporate an FDA-reviewed SCID test into their standard newborn screening panels and allow earlier identification for affected individuals,” Alberto Gutierrez, Ph.D., director of the Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health, said in a statement .
The FDA found that the EnLite test correctly identified 17 of 17 SCID cases in a study of 6,400 blood spot specimens from routine screening of newborns. The test also was able to adequately detect very low TREC DNA values that are associated with SCID, according to the agency.
The EnLite neonatal TREC kit is manufactured by Wallac Oy, a subsidiary of PerkinElmer. A PerkinElmer spokesman said the test is available immediately in the United States.
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