2OHGP - Overview: 2-Hydroxyglutaric Aciduria Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of 2-hydroxyglutaric aciduria Establishing a molecular diagnosis for patients with 2-hydroxyglutaric aciduria Identifying variants within genes known to be associated with...

VIRID - Overview: Viral Susceptibility, Defects in Intrinsic and Innate Immunity, Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inborn error of immunity causing a hereditary form of severe viral susceptibility Establishing a diagnosis of hereditary form of...

CHDGG - Overview: Congenital Heart Disease Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history of congenital heart disease Establishing a diagnosis of a genetic condition associated with congenital heart disease

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

PEPAN - Overview: Comprehensive Peripheral Neuropathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with peripheral neuropathy Identifying variants within genes known to be associated with peripheral neuropathy, allowing for predictive testing of at-risk family members

DWPAN - Overview: Comprehensive Distal Weakness Gene Panel, Varies

Establishing a molecular diagnosis for patients with distal weakness Identifying variants within genes known to be associated with distal weakness, allowing for predictive testing of at-risk family members

CDGGP - Overview: Congenital Disorders of Glycosylation Gene Panel, Varies

Establishing a molecular diagnosis for patients with congenital disorders of glycosylation Identifying variants within genes known to be associated with congenital disorders of glycosylation, allowing for predictive testing of at-risk...

CHLGP - Overview: Cholestasis Gene Panel, Varies

Establishing a molecular diagnosis for patients with monogenic cholestasis Identifying variants within genes known to be associated with primary, monogenic cholestasis, allowing for predictive testing of at-risk family members This panel...

REVE2 - Overview: Erythrocytosis Evaluation, Blood

Definitive, comprehensive, and economic evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased hemoglobin or hematocrit

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,...