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Test Code B0001
Test Summary

This test measures biotinidase to aid in the diagnosis of biotinidase deficiency.

Turn-Around-Time (TAT)* 3  days
Acceptable Sample Types
Dried Blood Spots
Acceptable Billing Types
Self (patient) Payment
Institutional Billing
*TAT starts after the sample and all required sample information is received at PerkinElmer Genomics, or after the benefits investigation is complete if requested for commercial insurance billing.

Decreases biotinidase enzyme activity is associated with biotinidase deficiency.

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.

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)

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. 

Dried Blood Spots
Collection Container(s):

Dried blood spot card


Follow kit instructions. Briefly, allow blood to saturate card until indicated areas are filled and blood has soaked through card. Air dry card at ambient temperature for at least 3 hours.

  • NBS: Please contact PKIG to request the StepOne® kit.
  • Gene Sequencing: Please contact PKIG to request the DBS collection kit.
  • For pre-punched DBS: The required minimum 6 punches with 3.2 mm or 4 punches 4.75 mm.
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.

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