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Biotinidase Deficiency Enzyme Analysis (Complete/Partial)
Biotinidase Deficiency Enzyme Analysis (Complete/Partial)
Biotinidase Deficiency Enzyme Analysis (Complete/Partial)
This test measures biotinidase to aid in the diagnosis of biotinidase deficiency.
| Test Code | B0001 |
|---|---|
| Test Summary |
This test measures biotinidase to aid in the diagnosis of biotinidase deficiency. |
| Turn Around Time | 3 days |
| Acceptable Sample Types | Dried Blood Spots |
| Acceptable Billing Types | Institutional Billing , Self (patient) Payment |
| NY Approved | Yes |
**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.
This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.
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Test information
Test description
Decreases biotinidase enzyme activity is associated with biotinidase deficiency.
Indications for testing
This test may be used to aid in the diagnosis of biotinidase deficiency. This test may be appropriate for individuals with a clinical history concerning for biotinidase deficiency or to confirm a diagnosis after a positive newborn screening result.
Condition description
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. Without treatment, signs and symptoms appear within the first few months of life. Profound biotinidase deficiency can cause seizures, weak muscle tone, breathing problems, hearing and vision loss, problems with movement and balance, skin rashes, hair loss, a fungal infection called candidiasis and delayed development. Biotinidase deficiency occurs in approximately 1 in 60,000 newborns. (NIH, genetics home reference)
Test methods and limitations
Colorimetry is used to measure certain analytes in solution, if the analyte is known to produce a measurable color change in reaction to certain reagents. The Colorimeter instrument applies a light of known wavelength to the solutions and measures the absorbance through the solution. The analyte’s concentration is determinable by the use of known concentrated standards to calibrate the test, and then measuring the analyte’s color change in reference to the standards.
Detailed sample requirements
Dried Blood Spots
| Collection Container(s) |
Dried blood spot card |
|---|---|
| Collection |
Follow kit instructions. Briefly, allow blood to saturate the card until indicated areas are filled and blood has soaked through the card. Air dry the card at ambient temperature for at least 3 hours.
|
| Sample Condition |
Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer. |
| Shipping |
Follow kit instructions. Double bag and ship overnight at ambient temperature. |
Resources
How To Order
Choose Your Test
Select the correct test for your patient, and download and fill out the Clinical Genomics test requisition form.
Collect Sample
Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs.
Send Samples
Send samples and all required forms back to Revvity for processing using pre-paid shipping label.
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