Organic Acids , (Comprehensive Quantitative), urine
| WSLH Department: | Biochemical Genetics |
| WSLH Test Code: | 554 |
| Availability: | Prior to submission of specimens for Biochemical Genetics testing, please contact the laboratory at: (608) 263-4619. |
| Turn-around Time: | 20 working days |
| Recommended Uses: | Will identify nearly all known organic acidemias. Organic acids are a broad class of compounds used in fundamental metabolic processes of the body (i.e. to generate cellular energy from dietary protein, fat and carbohydrate and provide the building blocks necessary for cell function). Accumulation of specific organic acids in urine often signals a metabolic inhibition or block. Examples of disorders identified by this test include methylmalonic acidemia, propionic acidemia, isovaleric acidemia, glutaric acidemia types I and II, Canavan disease and many others. Patients with certain fatty acid oxidation disorders and amino acid disorders also have organic acid abnormalities in urine. |
| Contraindications: | None |
| Additional Tests Performed: |
| Patient Preparations: | First morning void is ideal |
| Specimen Requirements: | Minimum 5 mL 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
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| 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 10+ organic acids and an interpretation of clinical significance |
| Limitations: | |
| Additional Tests Recommended: | See result report for recommendations |
| Additional Comments: |
| Methodology: | Gas Chromatography Mass Spectrometry |
| Includes: | Quantification of 10+ organic acids and interpretation |
| CPT Code: | 83918 |
| Price: | For pricing information, please call 608-262-9674 |