WESPR - Overview: Panel to Whole Exome Sequencing Reflex Test, Varies

Serving as a second-tier test for patients in whom previous genetic testing was negative or inconclusive Identifying causative variants in genes that were not included on panel testing which can allow for: -Better understanding of the...

ENAE - Overview: Antibody to Extractable Nuclear Antigen Evaluation, Serum

Evaluating patients with clinical features suggestive of antinuclear antibody (ANA) associated connective tissue disease. May also be indicated in patients who test negative for ANA and have features of Sjogren syndrome and idiopathic...

BRFKT - Overview: BRAF and KIT Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the BRAF and KIT genes that predict response to therapy

POX - Overview: Fatty Acid Profile, Peroxisomal (C22-C26), Serum

Evaluating patients with possible peroxisomal disorders, single-enzyme defects of peroxisomal metabolism, such as X-linked adrenoleukodystrophy or peroxisomal biogenesis disorders (Zellweger syndrome spectrum) using serum specimens Aiding...

HCVRP - Overview: Hepatitis C Virus (HCV) RNA Detection and Quantification, Real-Time Reverse Transcription-PCR, Prenatal, Serum

Detection of acute hepatitis C virus (HCV) infection before the appearance of HCV antibodies in serum (ie, <2 months from exposure) in women who are pregnant Detection and confirmation of chronic HCV infection in women who are...

POXP - Overview: Fatty Acid Profile, Peroxisomal (C22-C26), Plasma

Evaluating patients with possible peroxisomal disorders, including peroxisomal biogenesis disorders, X-linked adrenoleukodystrophy, and Refsum disease using plasma specimens Aiding in the assessment of peroxisomal function

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...

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.

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,...

XALDZ - Overview: X-Linked Adrenoleukodystrophy, Full Gene Analysis, Varies

Confirming a diagnosis of X-linked adrenoleukodystrophy Identifying a variant in the ABCD1 gene