EOSDF - Overview: Chronic Eosinophilia, Diagnostic FISH, Varies
Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement (including PDGFRA, PDGFRB, FGFR1, JAK2, and ABL1). Supporting the...
SMN1Z - Overview: SMN1 Gene, Full Gene Analysis, Varies
Confirming a diagnosis of spinal muscular atrophy due to nucleotide variants in SMN1 gene Second-tier carrier screening when there is a family history of spinal muscular atrophy, but an affected individual is not available for testing, or...
F8INP - Overview: Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Prenatal
Prenatal testing for hemophilia A when a variant has not been identified in the family
TTST - Overview: Testosterone, Total, Mass Spectrometry, Serum
Evaluating men with symptoms or signs of possible hypogonadism, such as loss of libido, erectile dysfunction, gynecomastia, osteoporosis, or infertility Evaluating boys with delayed or precocious puberty Monitoring testosterone...
Cocaine and Metabolite - Mayo Clinic Laboratories
Cocaine and Metabolite Interpretation The presence of cocaine >LOQ indicates exposure to cocaine within 1 day prior to specimen collection. The presence of benzoylecgonine >LOQ...
AMA - Overview: Mitochondrial Antibodies (M2), Serum
Establishing the diagnosis of primary biliary cholangitis This test is not useful for indicating the stage or prognosis of the disease or for monitoring the course of the disease.
STER - Overview: Sterols, Plasma
Investigation of possible desmosterolosis (desmosterol reductase deficiency), cerebrotendinous xanthomatosis, lathosterolosis, sitosterolemia, sterol C4 methyl oxidase deficiency, MEND (male EBP disorder with neurologic defects) syndrome,...
CPAVP - Overview: Copeptin proAVP, Plasma
Investigating the differential diagnosis for patients with water balance disorders, including diabetes insipidus, in conjunction with osmolality and hydration status May aid in the evaluation of cardiovascular disease in conjunction with...
ALKT - Overview: ALK Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying mutations within the ALK gene that predict resistance to ALK-inhibitors
MCMRU - Overview: Mast Cell Mediators, Random, Urine
Evaluating patients at risk for mast cell activation syndrome (eg, systemic mastocytosis) using random urine collections