A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Acylglycines, Quantitative Panel, Urine
Test Code37735
CPT Codes
82542, 82570
Includes
Ethylmalonic acid, Methylsuccinic acid, Propionylglycine, Isobutyrylglycine, Glutaric acid, Butyrylglycine, 2-Methylbutyrylglycine, Isovalerylglycine, 3-Methylcrotonylglycine, Tiglylglycine, Hexanoylglycine, Phenylpropionylglycine, Trans-cinnamoylglycine, Suberylglycine, and Creatinine, Random Urine
Preferred Specimen
10 mL urine collected in sterile screw-cap container, with no preservative, and 10 mL urine collected in sterile screw-cap container
Minimum Volume
1st urine: 2 mL
2nd urine: 0.5 mL
2nd urine: 0.5 mL
Other Acceptable Specimens
10 mL of a 24-hour urine, or Catheterized urine, or First void clean catch urine, collected in sterile screw-cap container - no preservative, and 10 mL of a 24-hour urine, or Catheterized urine, or First void clean catch urine collected in a sterile screw-cap container
Instructions
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.
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.
Transport Temperature
Frozen
Specimen Stability
Room temperature: Unacceptable
Refrigerated: 72 hours
Frozen: 28 days
Refrigerated: 72 hours
Frozen: 28 days
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Do not thaw • Shipping room temperature • Refrigerated for more than 3 days • Samples with pH less than 2
Methodology
Gas Chromatography/Mass Spectrometry (GC/MS)
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Monday-Saturday Morning Report available: 5 Days
Reference Range
See Laboratory Report
Clinical Significance
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.
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.
Performing Laboratory
Quest Diagnostics Nichols Institute-San Juan Capistrano, CA |
33608 Ortega Highway |
San Juan Capistrano, CA 92675-2042 |