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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 listed 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. The SCID/TREC (T-cell receptor excision circles) test was developed and its performance characteristics determined by DSHS. The test has not been approved by the US Food and Drug Administration (FDA). The FDA has determined that such approval is not necessary if performance characteristics are verified at the testing laboratory.
Disorders Screened: AMINO ACID DISORDERS: Argininosuccinic Acidemia (ASA). Citrulinemia (CIT), Homocystinuria (HCY), Maple Syrup Urine Disease (MSUD), Phenylketonuria (PKU), Tyrosinemia Type I (TYRI). FATTY ACID DISORDERS: Medium Chain Acyl-CoA Dehydrogenase Def. (MCAD), Very Long Chain Acyl-CoA Dehydrogenase Def. (VLCAD), Long Chain Hydroxyacyl-CoA Dehydrogenase Def. (LCHAD), Trifunctional Protein Def. (TFP), Carnitine Uptake Def. (CUD), ORGANIC ACID DISORDERS: Glutaric Acidemia l (GA-l), 3-OH 3-Methyl Glutaric Aciduria (HMG), Isovaleric Acidemia (IVA), Mutiple Carboxylase Def. (MCD), 3-Methyl Crotonyl-CoA Carboxylase Def. (3-MCC), Methymalonic Acidemia (MMA), Propionic Acidemia (PA), Beta-Ketothiolase Def. (BKT). GALACTOSEMIA BIOTINIDASE DEFICIENCY. CONGENITAL HYPOTHYROIDISM (CH). CONGENITAL ADRENAL HYPERPLASIA (CAH). HEMOGLOBINOPATHIES, including Hb S/S, Hb S/C, Hb S-Beta Thalassemia. CYSTIC FIBROSIS (CF), SEVERE COMBINED IMMUNODEFICIENCY (SCID)."
Link:
State's Website
Components
No component information is available.
Specimen Requirements
No specimen information is available.