HMEP - Overview: Hemiplegic Migraine With or Without Epilepsy Gene Panel, Varies

Establishing a molecular diagnosis in individuals with hemiplegic migraine Identifying disease-causing variants within genes known to be associated with hemiplegic migraine, allowing for predictive testing of at-risk family members

GATAS - Overview: GATA-Binding Protein 2, GATA2, Full Gene Analysis, Next-Generation Sequencing, Varies

Comprehensive evaluation of the GATA2 gene in patients with clinical or immunological symptoms suggestive of GATA-binding protein 2 (GATA2) deficiency Screening family members of patients with confirmed GATA2 deficiency

HIVDI - Overview: HIV-1 and HIV-2 Antibody Confirmation and Differentiation, Serum

Confirmation and differentiation of HIV-1 and HIV-2 antibodies in serum specimens that show reactive results with third-(HIV-1/-2 antibody only) and 4th-generation (HIV antigen and antibody) HIV serologic assays Confirmation and...

RFSGS - Overview: Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history of steroid resistant nephrotic syndrome (SRNS) Establishing a diagnosis of hereditary SRNS Guiding treatment decisions in individuals with nephrotic syndrome

MFBNG - Overview: FBN1 Full Gene Sequencing with Deletion/Duplication, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome and other FBN1-related conditions Establishing a diagnosis for Marfan syndrome and other FBN1-related conditions

LSDS - Overview: Lysosomal Disorders Screen, Random, Urine

Screening patients suspected of having a lysosomal disorder

AFTDP - Overview: Inherited Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Gene Panel, Varies

Establishing a molecular diagnosis for patients with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) Identifying variants within genes known to be associated with FTD and/or ALS, allowing for predictive testing of...

LGCMP - Overview: Inherited Limb-Girdle Muscular Dystrophy and Congenital Myasthenic Syndrome Gene Panel, Varies

Establishing a molecular diagnosis for patients with limb-girdle muscular dystrophy or congenital myasthenic syndrome Identifying variants within genes known to be associated with limb-girdle muscular dystrophy or congenital myasthenic...

RABMP - Overview: Inherited Rhabdomyolysis and Metabolic Myopathy Panel, Varies

Establishing a molecular diagnosis for patients with rhabdomyolysis and metabolic myopathy Identifying variants within genes known to be associated with rhabdomyolysis and metabolic myopathy, allowing for predictive testing of at-risk...

MNDP - Overview: Inherited Motor Neuron Disease Gene Panel, Varies

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