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.
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...
PBKQN - Overview: BK Virus DNA Detection and Quantification, Plasma
Detection and serial monitoring of BK virus-associated nephropathy in kidney transplant recipients using plasma specimens Detection and serial monitoring of BK virus-associated hemorrhagic cystitis in organ transplant recipients
BTDZ - Overview: Biotinidase Deficiency, BTD Full Gene Analysis, Varies
Second-tier test for confirming biotinidase deficiency (indicated by biochemical testing or newborn screening) Carrier testing of individuals with a family history of biotinidase deficiency, but disease-causing mutations have not been...
Q10 - Overview: Coenzyme Q10, Reduced and Total, Plasma
Diagnosis of primary coenzyme Q10 (CoQ10) deficiencies in some patients who are not supplemented with CoQ10 Diagnosis of CoQ10 deficiency in mitochondrial disorders Monitoring CoQ10 status during treatment of various degenerative...
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...
CALPR - Overview: Calprotectin, Feces
Evaluating patients suspected of having a gastrointestinal inflammatory process Distinguishing inflammatory bowel disease from irritable bowel syndrome, when used in conjunction with other diagnostic modalities, including endoscopy,...
C1INF - Overview: C1 Esterase Inhibitor, Functional, Serum
Diagnosing hereditary angioedema Monitoring response to C1 esterase inhibitor replacement therapy
IL6DX - Overview: Interleukin-6, Serum
Evaluating patients with suspected chronic inflammatory disorders, such as rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis, or inflammatory bowel disease Evaluating patients with Castleman disease Evaluating...
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...