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...
MYODT - Overview: MYOD1 Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the MYOD1 gene to assist in tumor diagnosis/classification Assisting in the clinical management of patients with spindle cell and sclerosing rhabdomyosarcoma
MPS4B - Overview: Mucopolysaccharidosis IV Enzyme Panel, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidosis type IVA and IVB This test is not useful for carrier detection.
MCMRU - Overview: Mast Cell Mediators, Random, Urine
Evaluating patients at risk for mast cell activation syndrome (eg, systemic mastocytosis) using random urine collections
Detecting Mycoplasma genitalium in cases of suspected infection This test is not intended for use in medico-legal applications.
OXYBS - Overview: Oxysterols, Blood Spot
Investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using blood spot specimens Monitoring of individuals with Niemann-Pick disease type C This test is not useful for the identification of carriers.
NTRKM - Overview: NTRK Genes Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying NTRK mutations that may predict resistance to Trk inhibitors
17PRN - Overview: Pregnenolone and 17-Hydroxypregnenolone, Serum
An ancillary test for congenital adrenal hyperplasia (CAH), particularly in situations in which a diagnosis of both 21- and 11-hydroxylase deficiency have been ruled out Confirming a diagnosis of 3-beta-hydroxysteroid dehydrogenase...
SHBG1 - Overview: Sex Hormone-Binding Globulin, Serum
Diagnosis and follow-up of women with signs or symptoms of androgen excess (eg, polycystic ovarian syndrome and idiopathic hirsutism) An adjunct in monitoring sex-steroid and antiandrogen therapy An adjunct in the diagnosis of disorders...
SCAP - Overview: Spinocerebellar Ataxia Repeat Expansion Panel, Varies
Molecular confirmation of clinically suspected spinocerebellar ataxia when a specific subtype isn't suspected