Amino Acids (Quantitative), Urine
| WSLH Department: | Biochemical Genetics |
| WSLH Test Code: | 553 |
| Availability: | Prior to submission of specimens for Biochemical Genetics testing, please contact the laboratory at: (608) 263-4619. |
| Turn-around Time: | 7 days after receipt of sample |
| Recommended Uses: | Defects in amino acid metabolism may result in the accumulation of one or more amino acids in the blood (aminoacidemia) or excess excretion in urine (aminoaciduria) leading to disorders such as phenylketonuria (PKU), maple syrup urine disease (MSUD), homocystinuria, glycine encephalopathy and various urea cycle defects. Defects in organic acid metabolism also have secondary abnormalities in amino acid levels. Clinical information is particularly important for appropriate interpretation. |
| Contraindications: | None |
| Additional Tests Performed: |
| Patient Preparations: | First morning void is ideal |
| Specimen Requirements: | Minimum 1mL urine |
| Specimen Handling & Transport: | Urine should remain frozen during transport. Note: Refrigerated specimens are acceptable provided the time between collection and receipt is less than 24 hours. |
| Collection Kit/Container: | |
| Collection Instructions: | The normal composition of urine varies during a 24-hour period. Most reference values are based on analysis of first morning voided urine. This specimen is preferred (but not necessary) because it has a more uniform volume and concentration. Avoid dilute urines if possible. To reduce contamination the specimen submitted for analysis should be a clean catch mid-stream sample. |
| Unacceptable Conditions: | Specimens sent at ambient temperature; Specimens with contamination (blood, bacteria, lipids); Mislabeled specimens; Insufficient specimen quantity |
| Requisition Form: |
Biochemical Genetics Requisition Form
|
| Required Information: | Laboratory regulations require the following minimum information to be provided on the requisition form for a specimen to be accepted for testing: Patient name or unique identifier; date and time of collection, patient date of birth and sex, specimen type/site of collection, test request(s), clinician name and UPIN, and address for reporting results. Please be certain that name/identifier on the form matches that on the specimen label. |
| Results Include: | Quantification of 20+ amino acids and interpretation of clinical significance |
| Limitations: | |
| Additional Tests Recommended: | See result report for recommendations |
| Additional Comments: |
| Methodology: | HPLC |
| Includes: | Quantification for 20+ amino acids and interpretation of the profile |
| CPT Code: | 82139 |
| Price: | For pricing information, please call 608-262-9674 |