Amino Acid Analysis, LC/MS, CSF
Use
Amino acid analysis is necessary for the diagnosis of a variety of inborn errors of metabolism (e.g., phenylketonuria, tyrosinemia, citrullinemia, non‑ketotic hyperglycinemia, maple syrup urine disease, homocystinuria). It is also important for monitoring treatment plans for these disorders and assessing nutritional status. The methodology is highly accurate at very low and elevated levels.
Special Instructions
Patient age is required for correct reference range; set‑up is Monday through Friday; report available in 6‑9 days; performing laboratory: Quest Diagnostics Nichols Institute, San Juan Capistrano.
Limitations
Not provided.
Methodology
Mass Spectrometry
Biomarkers
Result Turnaround Time
6-9 days
Related Documents
For more information, please review the documents below
Specimen
Cerebrospinal Fluid
Volume
1 mL
Minimum Volume
0.25 mL
Container
sterile screw‑cap container
Storage Instructions
Freeze CSF below −20 °C
Causes for Rejection
Gross hemolysis • Received room temperature
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Unacceptable |
| Refrigerated | 7 days |
| Frozen | 28 days |
