Use

The Invitae Supplemental Metabolic Newborn Screening Panel analyzes genes associated with metabolic conditions that are in the differential diagnosis for metabolic newborn screening disorders or may present in the newborn period but are not screened for by U.S. or state newborn screening. This panel includes but is not limited to congenital disorders of glycosylation, Smith-Lemli-Opitz syndrome, carbonic anhydrase VA deficiency, and certain lysosomal storage disorders. It may be appropriate for symptomatic infants, premature infants, or babies in the NICU who have similar clinical symptoms with metabolic newborn screening disorders but have tested negative on the Invitae Metabolic Newborn Screening Confirmation Panel. Testing of these genes may confirm a suspected diagnosis and help guide treatment and management decisions.