OUTSOURCE
Biotinidase Deficiency, Quantitative , Blood (G129)
Also Known As:
Biotinidase Deficiency (Quantitative) Heparin
About This Test
Biotinidase deficiency is an autosomal recessive disoder caused by mutations in the biotinidase gene. Age of onset and clinical phenotype vary depending on the amount of residual Biotinidase activity. The combined incidence of profound and partial Biotinidase deficiency is 1 in 61000. The carrier frequency in the general population is 1 in 120. This assay is used for diagnosing biotinidase deficiency. It is also useful for follow up testing for certain Organic acidurias.
Test Parameters (1)
- BIOTINIDASE DEFICIENCY, QUANTITATIVE , BLOOD (G129)
Home Collection
✓ Available
Reports Available In
2 Days
Frequently Asked Questions
Outsourced test are being done from Dr. Lal Path Lab. Charges and reporting time is same as of Dr. Lal Path Labs.
No special preparation required
This test is important for early detection and treatment of biotinidase deficiency to prevent neurological and developmental issues.
TAT Policy
The Turnaround Time (TAT) depends on the following factors:
- Registration date and time
- Type of scan or test
- Scan time or sample collection time
In uncommon circumstances, TAT may be delayed due to test complexity or reasons beyond our control. You will be informed of the estimated TAT at the time of registration.
