FABRZ - Overview: Fabry Disease, Full Gene Analysis, Varies
Confirmation of a diagnosis of classic or variant Fabry disease in affected males with reduced alpha- galactosidase A enzyme activity Carrier or diagnostic testing for asymptomatic or symptomatic females, respectively
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,...
Aiding in the distinction between the myeloproliferative neoplasm polycythemia vera and other secondary erythrocytosis
PD2T - Overview: Pompe Disease Second-Tier Newborn Screening, Blood Spot
Second-tier testing of newborns with an abnormal primary screening result for Pompe disease (decreased acid alpha-glucosidase enzyme activity) Follow-up testing for evaluation of an abnormal newborn screening result for Pompe disease
CTSU - Overview: Ceramide Trihexosides and Sulfatides, Random, Urine
Identifying patients with Fabry disease Identifying patients with metachromatic leukodystrophy Identifying patients with saposin B deficiency Identifying patients with multiple sulfatase deficiency Identifying patients with...
IDHT - Overview: IDH1 and IDH2 Mutation Analyses, Next-Generation Sequencing, Tumor
Identifying specific mutations within the IDH1 and IDH2 genes that assist in tumor diagnosis/classification and predict response to targeted therapy
HIVQN - Overview: HIV-1 RNA Detection and Quantification, Plasma
Quantifying plasma HIV-1 RNA levels (viral load) in individuals living with HIV-1: -Before initiating antiretroviral therapy to obtain baseline viral load -Who may have developed HIV-1 drug resistance while on antiretroviral therapy -Who...
GAST - Overview: Gastrin, Serum
Investigation of patients with achlorhydria or pernicious anemia Investigation of patients suspected of having Zollinger-Ellison syndrome Diagnosis of gastrinoma
EGFRW - Overview: EGFR Targeted Mutation Analysis with ALK Reflex, Tumor
Identifying non-small cell lung cancers that may benefit from treatment with epidermal growth factor receptor -targeted therapies or anaplastic lymphoma kinase inhibitors
MCLNR - Overview: MayoComplete Lung Rearrangements, Rapid Test, Tumor
Identifying lung tumors that may respond to targeted therapies by simultaneously assessing multiple genes involved in rearrangements resulting in fusion transcripts Diagnosing and managing patients with lung cancer