Test Catalog Search Results

PSY - Overview: Psychosine, Blood Spot

Aids in the biochemical detection of Krabbe disease and saposin A cofactor deficiency Second-tier testing or follow up testing after an abnormal newborn screening result in an infant for Krabbe disease This test is not capable of...

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...

PBGU - Overview: Porphobilinogen, Quantitative, Random, Urine

First-order test for evaluating a suspected acute porphyria: acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria

RKUR - Overview: Potassium, Random, Urine

Determining the cause for hyper- or hypokalemia using a random urine specimen