PHEGP - Overview: Phenylalanine Disorders Gene Panel, Varies

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

PDGP - Overview: Peroxisomal Disorder Gene Panel, Varies

Follow up of abnormal biochemical result, usually very long-chain fatty acid test consistent with peroxisomal disorder Establishing a molecular diagnosis for patients with peroxisomal disorders Identifying variants within genes known to...

GNPRS - Overview: Protein S Deficiency, PROS1 Gene, Next-Generation Sequencing, Varies

Evaluating protein S deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming a diagnosis of autosomal dominant protein S deficiency with the identification of a known or suspected...

TSCP - Overview: Tuberous Sclerosis Gene Panel, Varies

Establishing a molecular diagnosis in individuals with features of tuberous sclerosis complex (TSC). Identifying pathogenic variants within the TSC1 and TSC2 genes known to be associated with TSC, allowing for predictive testing of at-risk...

TRECS - Overview: T-Cell Receptor Excision Circles Analysis, Blood

Measuring T-cell output or reconstitution (thymopoiesis) following hematopoietic cell transplantation or highly active antiretroviral therapy Evaluating thymic function in patients with cellular or combined inborn errors of immunity...

UCDP - Overview: Urea Cycle Disorders Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a urea cycle disorder (UCD) Establishing a molecular diagnosis for patients with a UCD Identifying variants within genes known to be associated with UCD, allowing for predictive...

AKC - Overview: Adenylate Kinase Enzyme Activity, Blood

Assessment of adenylate kinase activity as part of the evaluation of chronic nonspherocytic hemolytic anemia

RAMBO - Overview: Ammonium, Random, Urine

Diagnosis of the cause of acidosis using random urine specimens Diagnosis and treatment of kidney stones

A2PI - Overview: Alpha-2 Plasmin Inhibitor, Plasma

Diagnosing congenital alpha-2 plasmin inhibitor deficiencies (rare) Providing a complete assessment of disseminated intravascular coagulation, intravascular coagulation and fibrinolysis, or hyperfibrinolysis (primary fibrinolysis), when...

CYSR - Overview: Cystinuria Profile, Quantitative, Random, Urine

Biochemical diagnosis of cystinuria using random urine specimens