Short 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.

PreTest Information

No special preparation required

Detail Description

BIOTINIDASE ACTIVITY QUANTITATIVE BLOOD Test: Symptoms, Diagnosis and Cost

DNA Labs India is a leading diagnostic laboratory in the country that offers a wide range of tests to diagnose various genetic disorders. One such test is BIOTINIDASE ACTIVITY QUANTITATIVE BLOOD Test. This test is essential to detect the deficiency of biotinidase enzyme in the body. In this blog, we will discuss the symptoms, diagnosis, and cost of BIOTINIDASE ACTIVITY QUANTITATIVE BLOOD Test.

Symptoms of Biotinidase Deficiency:

Biotinidase deficiency is a rare genetic disorder that affects the body's ability to process biotin, a vitamin that is essential for the growth and development of the body. The symptoms of biotinidase deficiency include:

• Poor appetite
• Lethargy
• Hypotonia (low muscle tone)
• Hearing loss
• Seizures
• Alopecia (hair loss)
• Developmental delay
• Vision problems
• Skin rashes

If your child is experiencing any of these symptoms, it is important to get them tested for biotinidase deficiency.

Diagnosis of Biotinidase Deficiency:

The BIOTINIDASE ACTIVITY QUANTITATIVE BLOOD Test is used to diagnose biotinidase deficiency. This test measures the activity of biotinidase enzyme in the blood. If the activity of the enzyme is lower than normal, it indicates biotinidase deficiency.

The test is simple and involves taking a blood sample from the patient. The sample is then sent to the laboratory for analysis. The results of the test are usually available within a week.

Cost of BIOTINIDASE ACTIVITY QUANTITATIVE BLOOD Test:

The cost of the BIOTINIDASE ACTIVITY QUANTITATIVE BLOOD Test at DNA Labs India is INR 5200. The test is affordable and is covered by most health insurance plans. If you are concerned about the cost of the test, you can contact DNA Labs India to discuss payment options.

Conclusion:

BIOTINIDASE ACTIVITY QUANTITATIVE BLOOD Test is a crucial test for diagnosing biotinidase deficiency, a rare genetic disorder. The symptoms of biotinidase deficiency can be severe, and it is important to get tested if your child is experiencing any of them. The cost of the test at DNA Labs India is affordable, and the results are usually available within a week. Contact DNA Labs India to schedule a test for your child and get peace of mind.

For more information about BIOTINIDASE ACTIVITY QUANTITATIVE BLOOD Test or to schedule an appointment, visit DNA Labs India's website today.