Biotinidase
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| WSLH Department: | Biochemical Genetics |
| WSLH Test Code: | 520 |
| Day(s) Performed: | Prior to submission of specimens for Biochemical Genetics testing, please contact the laboratory at: (608) 263-4619. |
| Turn-around Time: | 20 days |
| Recommended Uses: | Biotinidase is an enzyme that frees biotin (vitamin B) from food for use by the body. Symptoms of untreated biotinidase deficiency may appear anytime between 1 week and 10 years of age. Biotinidase deficiency may lead to seizures, delayed development, vision problems, speech problems, respiratory problems, eczema, hearing loss, etc. |
| Pre-approval: | N |
| Contraindications: | None |
| Additional Tests Performed: |
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| Preparation for Collection: | |
| Specimen Requirements: | Minimum 0.5mL serum |
| Collection Instructions: | Perform venipuncture as with any other blood collection device and draw 2.5 times the volume requested. Gently invert the tube no more than eight times. Further inversion my cause loss of sample integrity. Do not remove the stopper. Do not centrifuge immediately after collection. Allow the blood to clot at least 30 minutes but no more than 1 hour before centrifugation. Centrifuge the tube. Transfer the serum to a plastic screw top freezer vial for transport to WSLH. Transport to WSLH frozen. |
| Collection Kit/Container: |
Serum Separator Tube (red top)
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| 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. |
| Rejection Criteria: | Specimens sent at ambient temperature; Specimens with contamination (blood, bacteria, lipids); Mislabeled specimens; Insufficient specimen quantity |
| Specimen Handling: | Serum should remain frozen during transport. Proper specimen handling is critical. This is a test for enzyme activity. Exposure to heat, or multiple freeze-thaw cycles can damage the enzyme and lead to a false negative result. |
| Packaging Requirements: | |
| Courier Information: | |
| Specimen Receiving Hours: | Monday-Friday 7:00 AM - 4:30 PM, Saturday 7:00 AM - 12:00 PM |
| Results Include: | Interpretation of clinical significance |
| Limitations: | Proper specimen handling is critical. This is a test for enzyme activity. Exposure to heat, or multiple freeze-thaw cycles can damage the enzyme and lead to a false negative result. |
| Additional Tests Recommended: | See result report for recommendations |
| Additional Comments: |
| Methodology: | Spectrophotometry |
| Includes: | Interpretation of enzyme activity |
| Regulatory Compliance: |
| CPT Code: | 82261 |
| Price: | For pricing information, please call 608-262-9674 |
| Fee Exempt Eligible: | N |
| Billing and Revenue Office: | 1-800-862-1065 arbill@slh.wisc.edu |