SMNDX - Overview: Spinal Muscular Atrophy Diagnostic Assay, Deletion/Duplication Analysis, Varies

First-tier newborn screening for spinal muscular atrophy (SMA) Prenatal testing for SMA Diagnostic testing to confirm a suspected diagnosis of SMA

GSDGP - Overview: Glycogen Storage Disease Gene Panel, Varies

Follow up of abnormal biochemical results consistent with glycogen storage disease (GSD) Establishing a molecular diagnosis for patients with GSD Identifying variants within genes known to be associated with GSD allowing for predictive...

HFAOP - Overview: Fatty Acid Oxidation Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a fatty acid oxidation disorder Establishing a molecular diagnosis for patients with a fatty acid oxidation disorder Identifying variants within genes known to be associated with a...

KETGP - Overview: Ketone Disorders Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a ketone disorder Establishing a molecular diagnosis for patients with ketone disorders Identifying variants within genes known to be associated with ketone disorders, allowing for...

MPAGP - Overview: Methylmalonic Aciduria-Propionic Aciduria Combined Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of methylmalonic acidemia or propionic acidemia Establishing a molecular diagnosis for patients with methylmalonic acidemia or propionic acidemia Identifying variants within genes...

MMAGP - Overview: Methylmalonic Aciduria Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a methylmalonic acidemia Establishing a molecular diagnosis for patients with methylmalonic acidemia Identifying variants within genes known to be associated with methylmalonic...

DMNES - Overview: Peripheral Nervous System Demyelinating Neuropathy, Autoimmune Evaluation, Serum

Evaluating patients with a suspected immune-mediated demyelinating peripheral neuropathy

SCN5A - Overview: Brugada Syndrome, SCN5A Full Gene Analysis, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Brugada syndrome Establishing a diagnosis of Brugada syndrome

NSRGG - Overview: Noonan Syndrome and Related Conditions Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome with loose anagen hair, cardiofaciocutaneous syndrome, Costello syndrome,...

NMITO - Overview: Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies

Diagnosing the subset of mitochondrial disease that results from variants in the nuclear-encoded genes A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...