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Test
test details

BIOTINIDASE (QUANTITATIVE) O.S.

MRP: ₹5700

Recommended For

maleMalefemaleFemale
  • Age Group
    Age Group0-99 Years
  • Report Generation Time
    Report Generation Time03-05-2024 08:47:40
  • Sample Type
    blood sampleHeparin blood
  • Collection At
    home visitHomelab flaskLab
Description

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.

Pre-Information

No specific preparation required

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