Biotinidase Deficiency Enzyme Analysis (Complete/Partial)

Omics test Model
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
*TAT starts after the sample and all required sample information is received at the processing laboratory.

**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.
This test is not available in your region Japan, please select your nearest laboratory to request more information.
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Test Code: B0001
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General Biochemical and Molecular Requisition Form

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
Test Details Page
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.

  • NBS: Please contact Revvity Omics to request the StepOne® kit.
  • Gene Sequencing: Please contact Revvity Omics to request the DBS collection kit.
  • For pre-punched DBS: The required minimum is 6 punches
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

General Biochemical and Molecular Requisition Form