Abnormal NBS Results

Baby Genes provides rapid follow-up testing for abnormal metabolic newborn screening (NBS) results. By utilizing targeted sequencing of 99 genes clinically linked to 71 metabolic conditions, physicians receive genetic verification of metabolic results within 96 hours of sample receipt. Rapid reflex testing is the key to quick diagnostics and treatment initiation.

Traditional follow-up testing for abnormal NBS involves repeat metabolic testing often followed by genetic testing. Due to the nature of the analysis, it may be weeks before a formal diagnosis is reached. With Baby Genes, targeted sequencing provides rapid genetic information to allow for diagnosis within the first week of life. Together with the metabolic results, genetic sequencing results provide comprehensive and accurate answers for physicians and families.

Baby Genes in the NICU

Due to their poor metabolic state and administered medications, infants within the NICU are highly susceptible to false metabolic NBS results. NBS is often repeated multiple times during a child’s NICU stay in attempt to capture accurate metabolic results. By utilizing DNA as a testing source, Baby Genes provides accurate and reliable results for infants within the NICU. Through targeted sequencing, a supplement to conventional NBS is available for premature or ill infants.

Exploratory Diagnostics

For physicians seeking genetic sequencing for undiagnosed patients, Baby Genes Newborn Panel provides sequencing of 99 genes that are clinically linked to 71 conditions. Results are reported within 96 hours of sample receipt. Trio testing is also available if parental information aids in the diagnostic process. This panel can provide a resource to physicians in the diagnostic and elimination process.

Included Genes and Conditions Learn More About The Process  Ordering a Test