PSYCF - Overview: Psychosine, Spinal Fluid

Aiding in the biochemical diagnosis of Krabbe disease using cerebrospinal fluid specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring...

TRYPT - Overview: Tryptase, Serum

Evaluation of individuals with suspected mast cell activation, which may occur as a result of anaphylaxis or allergen challenge Evaluation of patients with suspected mast cell activation syndrome Evaluation of patients with suspected...

EGWTP - Overview: Egg White Component Profile, Serum

Identifying egg white allergens: -Responsible for allergic disease and/or anaphylactic episode -To confirm sensitization prior to beginning immunotherapy This test is not useful for patients previously treated with immunotherapy to...

AAMSD - Overview: Amino Acids, Maple Syrup Urine Disease Panel, Plasma

Follow-up of patients with maple syrup urine disease Monitoring of dietary compliance for patients with maple syrup urine disease

HCMM - Overview: Homocysteine (Total), Methylmalonic Acid, and Methylcitric Acid, Blood Spot

Second-tier assay of newborn screening specimens when abnormal propionyl carnitine or methionine concentrations are identified in a primary newborn screen

GALP - Overview: Galactose, Quantitative, Plasma

Screening for galactosemia

GALU - Overview: Galactose, Quantitative, Random, Urine

Screening test for galactosemia using urine specimens

PKU - Overview: Phenylalanine and Tyrosine, Plasma

Monitoring effectiveness of dietary therapy in patients with hyperphenylalaninemia

RISA - Overview: Risankizumab, Serum

Assessing the response to risankizumab therapy Assessing the need for dose escalation Evaluating potential changes or discontinuation of therapy Monitoring patients who need to be above a certain risankizumab concentration to improve the...

CTXWB - Overview: Cerebrotendinous Xanthomatosis, Blood

Evaluating patients with a clinical suspicion of cerebrotendinous xanthomatosis (CTX) Monitoring of individuals with CTX on chenodeoxycholic acid (CDCA) therapy This test is not useful for the identification of carriers. This test is...