New Second-Tier Newborn Screening Testing Starting February 1, 2012

Texas Health and Human Services Commission sent this bulletin at 01/23/2012 05:21 PM CST / Este e-mail ha sido enviado por Texas Health and Human Services Commission el 01/23/2012 05:21 PM CST

New Second-Tier Newborn Screening Testing

Starting February 1, 2012

 

2nd-Tier Genetic Testing for Medium Chain Acyl-CoA Dehydrogenase Deficiency

 

The Texas Newborn Screening Program will start offering a molecular testing service to detect four common mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene on February 1, 2012. The purpose of this testing is to assist in identifying affected infants and improve patient outcomes.

 

Each newborn in the State of Texas is screened for MCAD deficiency by Tandem Mass Spectrometry (MS/MS). All newborn screening specimens with screening results of possible MCAD deficiency will be reflexed to a 2nd-tier DNA test. A MCAD DNA report separate from the regular newborn screening report will be sent to the submitting facility.

 

The four mutations included in the testing panel are K304E, L59F, R123K, and N169D. The results will be reported as homozygous, heterozygous, or negative for each of the four mutations tested and should be interpreted in the context of the patient’s MCAD biochemical phenotype.

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The DSHS Laboratory staff is pleased to announce this new addition to our existing Newborn Screening Program. If you have any questions, please contact the Newborn DNA Analysis Laboratory at 512-776-7158 or NewbornScreeningLab@dshs.state.tx.us.