MPS2R - Overview: Endogenous Mucopolysaccharidosis Type II (I2S [Iduronate-2-Sulfatase]) Biomarker Reflex, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type II (MPS II, decreased iduronate-2-sulfatase) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired in...

EFPO - Overview: Electrolyte and Osmolality Panel, Feces

Workup of cases of chronic diarrhea Diagnosis of factitious diarrhea (where patient adds water to stool to simulate diarrhea)

MPS1R - Overview: Endogenous Mucopolysaccharidosis Type I (IDUA [Alpha-L-Iduronidase]) Biomarker Reflex, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type I (MPS I, decreased alpha-L-iduronidase activity) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired...

TFH - Overview: FH Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the FH gene to assist in tumor diagnosis/classification, including renal cell carcinoma, uterine/cutaneous leiomyoma, and pheochromocytoma/paraganglioma

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

HSMBS - Overview: Hepatosplenomegaly Panel, Blood Spot

As a component of the initial evaluation of a patient presenting with hepatosplenomegaly, using dried blood spot specimens This test is not useful for the identification of carriers. This test should not be used as a monitoring tool for...

MSMRT - Overview: Mayo Algorithmic Approach for Stratification of Myeloma and Risk-Adapted Therapy Report, Bone Marrow

Risk stratification of patients with treated multiple myeloma, which can assist in determining treatment and management decisions Risk stratification of patients with newly diagnosed multiple myeloma

MCMRU - Overview: Mast Cell Mediators, Random, Urine

Evaluating patients at risk for mast cell activation syndrome (eg, systemic mastocytosis) using random urine collections

MSMRD - Overview: Myeloma Stratification and Risk-Adapted Therapy with Reflex to Minimal Residual Disease, Bone Marrow

Risk stratification of patients with treated multiple myeloma, which can assist in determining treatment and management decisions Risk stratification of patients with newly diagnosed multiple myeloma

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.