Biotinidase Deficiency, Quantitative , Blood (G129) - Delhi
OUTSOURCE
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Radiology
Also Known As:
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.
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Home Collection: Available
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Reports Available: 2 Days
TAT Policy
The Turnaround Time (TAT) for a test depends on the following factors:
- Registration date and time
- Type of scan or test
- Scan time or sample collection time
Please note that in uncommon circumstances, TAT may be delayed due to the complexity of the test or reasons beyond our control. You will be informed about the estimated TAT at the time of registration or after completion of the test.
