GAAW - Overview: Acid Alpha-Glucosidase, Leukocytes
Diagnosis of Pompe disease
GSH - Overview: Glutathione, Blood
Evaluation of neonatal hyperbilirubinemia, favism or chronic or episodic hemolysis or jaundice Evaluation for gamma-glutamylcysteine synthetase deficiency Evaluation for glutathione synthetase deficiency causing hemolytic anemia...
KRASP - Overview: KRAS Somatic Mutation Analysis, Tumor
Detecting molecular markers associated with response or resistance to specific cancer
PBALP - Overview: Porphobilinogen and Aminolevulinic Acid, Plasma
An equivalent option to urine for first-line test for evaluation of a suspected acute porphyria Monitoring patients undergoing treatment for an acute intermittent porphyria or other acute porphyria
7AC4 - Overview: 7AC4, Bile Acid Synthesis, Serum
Screening for bile acid malabsorption in patients with irritable bowel syndrome with diarrhea
TPBF - Overview: Protein, Total, Body Fluid
Identification of exudative pleural effusions Differentiating hepatic from other causes of ascites that have elevated serum ascites albumin gradient using peritoneal fluid
ARSBW - Overview: Arylsulfatase B, Leukocytes
Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) in whole blood specimens This test is not useful for carrier detection.
AN2TC - Overview: Antineuronal Nuclear Antibody Type 2 (ANNA-2) Titer, Spinal Fluid
Investigating middle-aged or older patients who present with unexplainable signs of midbrain/cerebellar/brain stem disorder and/or myelopathy, especially women with a previous history of breast cancer, and both sexes if there is a history...
CSTB - Overview: CSTB Gene, Repeat Expansion Analysis, Varies
Molecular confirmation of clinically suspected CSTB-related progressive myoclonic epilepsy Identifying full penetrance dodecamer repeat expansions within CSTB known to cause CSTB-related progressive myoclonic epilepsy, allowing for...
AN2TS - Overview: Antineuronal Nuclear Antibody Type 2 (ANNA-2) Titer, Serum
Investigating middle-aged or older patients who present with unexplainable signs of midbrain/cerebellar/brain stem disorder and/or myelopathy, especially women with a previous history of breast cancer, and both sexes if there is a history...