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 NEWBORN SCREEN Test cost INR:807.3 symptoms diagnosis

As a new parent, you want to ensure that your newborn is healthy and free from any medical conditions. One test that can help to detect potential health issues early on is the Biotinidase Newborn Screen test. In this blog, we will discuss the cost of the test, the symptoms and diagnosis of biotinidase deficiency.

Biotinidase Deficiency

Biotinidase deficiency is a rare genetic disorder that affects the body's ability to process biotin, a B-vitamin that is essential for the metabolism of carbohydrates, fats, and proteins. When biotin is not properly processed, it can lead to a range of health problems, including seizures, skin rashes, hair loss, and developmental delays.

Symptoms of Biotinidase Deficiency

The symptoms of biotinidase deficiency can vary from mild to severe. Some of the common symptoms include:

• Seizures
• Hair loss
• Skin rashes
• Weakness
• Hypotonia (low muscle tone)
• Developmental delays

Diagnosis of Biotinidase Deficiency

The diagnosis of biotinidase deficiency is typically made through a blood test. The Biotinidase Newborn Screen test is a simple and effective way to detect this condition early on. The test is performed on a sample of blood taken from a newborn's heel, typically within the first few days of life.

Cost of Biotinidase Newborn Screen Test

The cost of the Biotinidase Newborn Screen test in India is approximately INR 807.3. This cost may vary depending on the location and facility where the test is performed.

Conclusion

The Biotinidase Newborn Screen test is an important tool for detecting biotinidase deficiency in newborns. Early diagnosis and treatment can help to prevent serious health problems and ensure that your child grows up healthy and strong. If you have any concerns about your child's health, speak to your healthcare provider about the Biotinidase Newborn Screen test.

For more information on genetic testing and screening, contact DNA Labs India.