Gas Chromatography/Mass Spectromety (GC/MS) Stable Isotope Dilution Analysis
Biochemical diagnosis of selected inborn errors of metabolism by quantitative determination of target urinary metabolites that are present in amounts below the detection limit of routine organic acid analysis.
Interpretive report provided.
Due to the limited number of metabolites included in the acylglycine analysis, it is recommended that an "Organic Acids Screen, Urine" also be performed concurrently.
5 - 15 days
- Hexadecanedioic Acid
- Tetradecanedioic Acid
- Dodecanedioic Acid
- Glutaric Acid
- 2-Methylsuccinic Acid
- Ethylmalonic Acid
- Acylglycines, QN, U
Collect random urine specimen and freeze.
Test includes 6 organic acids (ethylmalonic acid, 2-methylsuccinic acid, glutaric acid, dodecanedioic acid, tetradecanedioic acid, and hexadecanedioic acid) and nine acylglycines (isobutyrlglycine, n-butyrlglycine, 2-methylbutyrlglycine, isovalerylglycine, n-hexanoylglycine, n-octanoyl-glycine 3-phenylpropionylglycine, suberylglycine, and trans-cinnamoylglycine). Test sent to Mayo Medical Laboratories.