Biotinidase Enzyme Analysis
Use
Biotinidase Enzyme Analysis provides enzymatic analysis of biotinidase, essential for diagnosing biotinidase deficiency linked to pathogenic variants in the BTD gene. This deficiency occurs due to reduced or absent biotinidase activity and can lead to serious conditions such as seizures, hypotonia, ataxia, developmental delays, hearing loss, and skin problems including alopecia and frequent rashes. Immediate biotin supplementation is crucial upon symptom onset to mitigate these issues. It is not suitable for carrier screening as carriers usually exhibit normal biotinidase activity, but indications for testing include patients with a suspected diagnosis and positive newborn screening.
Special Instructions
Specimen must be handled properly as biotinidase is labile. Serum should be frozen immediately after collection. It’s essential to ship the specimen quickly under specific conditions to preserve enzyme activity.
Limitations
Biotinidase is a very labile enzyme, requiring strict specimen handling. Serum must be kept frozen since improper handling, including thawing, can lead to significant loss of enzymatic activity, resulting in potential false positives. Laboratories must ensure adherence to these guidelines to maintain test accuracy.
New York Approved
Methodology
Other
Biomarkers
Result Turnaround Time
8 days
Related Documents
For more information, please review the documents below
Specimen
Serum (Frozen)
Volume
1-2 cc
Minimum Volume
1 cc
Container
No Additive (red-top) or Serum Gel (red/gray-top) tube
Collection Instructions
Draw blood and separate as soon as possible. Freeze the specimen immediately after collection at -20C if possible.
Other tests from different labs that may be relevant