Amino Acid Analysis for MSUD, Plasma
Also known as: Maple Syrup Urine Disease, AA
Use
Amino acid analysis is necessary for the diagnosis of a variety of inborn errors of metabolism, including but not limited to phenylketonuria, tyrosinemia, citrullinemia, non‑ketotic hyperglycinemia, maple syrup urine disease (MSUD), and homocystinuria. This assay is also key for monitoring treatment plans for these disorders and for assessing nutritional status. The methodology demonstrates high accuracy at very low and elevated levels.
Special Instructions
Not provided.
Limitations
Not provided.
Methodology
Mass Spectrometry
Biomarkers
Result Turnaround Time
6-9 days
Related Documents
For more information, please review the documents below
Specimen
Plasma
Volume
2 mL
Minimum Volume
0.25 mL
Container
sodium heparin (green‑top) tube
Collection Instructions
Collect after an overnight fast (or at least 4 hours after a meal). Separate plasma from cells as soon as possible and freeze below ‑20 °C. Include date of collection and age of patient.
Patient Preparation
Overnight fast (or at least 4 hours after a meal)
Causes for Rejection
Gross hemolysis; samples received room temperature
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Unacceptable |
| Refrigerated | 7 days |
| Frozen | 28 days |
Other tests from different labs that may be relevant