Acylglycines are an important class of metabolites that are used in the diagnosis of several organic acidurias and mitochondrial fatty acid oxidation disorders. This test is intended for the diagnosis and monitoring of several organic acidemias and fatty acid disorders affecting multiple metabolic pathways. Disorders diagnosed by Acylglycines assay: Isovaleric acidemia 3-Methylcrotonyl-Co-A-carboxylase deficiency Short-chain acyl-CoA dehydrogenase(SCAD) deficiency Ethylmalonic Encephalopathy Propionic acidemia Glutaric aciduria type-1, 2 and 3 Medium-chain acyl-CoA dehydrogenase(MCAD) Beta-ketothiolase deficiency 17-Beta-hydroxysteroid dehydrogenase deficiency Isobutyryl-CoA dehydrogenase deficiency Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) The test will also allow physicians to determine dietary compliance or the effectiveness of dietary/cofactor therapy for their patients. It can also be used, alone or in conjunction with other tests, to confirm the findings of a positive expanded newborn screen.
Sterile screw cap container. Ship frozen. Do not thaw.
From one thoroughly mixed sterile collection container, divide
into two sterile collections: (1) minimum 2 mL in sterile screw
cap container AND (2) minimum 0.5 mL in sterile screw cap
container. Freeze immediately. Send both samples together.
Patient age should be included.
Reported (Analytical Time)
The CPT codes provided are based on AMA guidelines and are for informational purposes only.
CPT coding is the sole responsibility of the billing party.
Please direct any questions regarding coding to the payer being billed.
Specimen Reqiurements: 10 mL (2 mL minimum) urine collected in sterile cap container, with no preservative AND 10 mL (0.5 minimum) urine collected in sterile screw cap container. Acceptable Specimen: 24 Hour Urine Catherized urine First void clean catch urine, no preservative Reject Criteria: Do Not THAW; Shipping Room Temp or refrigerated for more than 3 days; Samples with pH less than 2 Specimen Stability: Room temperature; Unacceptable Transport Temperature: Frozen Methodology: Gas Chromatography/Mass Spectrometry