General Information

Alias: NBS, Neonatal Screen

Performed: Mon-Fri

Turn Around Time: 7-10 Days

Performed By: Texas Department of State Health Services

Notes: Collections instructions: This test is mandated by the State of Texas to be performed twice before 13 months. The first collection should occur at 24-48 hours of age and the second at 1-2 weeks. The lab is available to collect the first sample 24/7.

Clinical Utility:

The newborn screen identifies newborns at increased risk for specified disorders.  The reference value for all screened disorders is 'Normal'. Analyte results are only reported for abnormal disorder screening results. The recommended collection time period and the testing methodologies have been designed to minimize the number of false negative and false positive results in newborns and young infants. When the newborn screen specimen is collected before 24 hours of age or on older children, the test may not identify some of these conditions. If there is a clinical concern, diagnostic testing should be initiated. Specimens that are unacceptable are reported as Unsatisfactory. List of disorders screened available at https://www.dshs.texas.gov/lab/NBSDisordersScreened

 

The SCID/SMA test is performed by multiplex real-time PCR to detect the presence of T-cell receptor excision circles (TRECs) and SMN1 gene homozygous exon 7 deletion. The detection rate is estimated to be 95% of SMA cases. SCID, SMA, Biotinidase deficiency, Hemoglobinopathy, and Lysosomal Diseases screening test and CAH, X-ALD, and Lysosomal Diseases reflex panels were developed/ modified and performance characteristics determined by DSHS. These tests have not been cleared or approved by the US Food and Drug Administration (FDA).

Link: State's Website

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Components

No component information is available.

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Specimen Requirements

No specimen information is available.

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