Short Description

NGS genetic DNA test detecets for variant and mutation detection in BTD gene for Biotinidase deficiency

PreTest Information

Clinical History of Patient who is going for BTD Gene Biotinidase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Biotinidase deficiency

Detail Description

BTD Gene Biotinidase Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DNA Labs India offers the latest Next Generation Sequencing (NGS) genetic DNA test for BTD gene biotinidase deficiency. This test is available at a cost of INR 20,000. In this blog, we will discuss the symptoms and diagnosis of biotinidase deficiency and how the NGS genetic DNA test can help.

What is Biotinidase Deficiency?

Biotinidase deficiency is a rare metabolic disorder that affects the body's ability to recycle biotin. Biotin is a B-vitamin that is essential for the metabolism of fats, proteins, and carbohydrates. Biotinidase deficiency can lead to a range of symptoms, including skin rash, hair loss, seizures, developmental delay, and hearing loss.

What are the Symptoms of Biotinidase Deficiency?

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

• Skin rash
• Hair loss
• Seizures
• Developmental delay
• Hearing loss
• Weak muscle tone
• Poor appetite
• Nausea and vomiting
• Eye problems
• Respiratory infections

How is Biotinidase Deficiency Diagnosed?

Biotinidase deficiency can be diagnosed through a blood test that measures the level of biotinidase enzyme activity. A low level of biotinidase activity indicates biotinidase deficiency. The NGS genetic DNA test can also be used to diagnose biotinidase deficiency by identifying mutations in the BTD gene.

What is the NGS Genetic DNA Test for BTD Gene Biotinidase Deficiency?

The NGS genetic DNA test is a cutting-edge technology that analyzes all the genes in a person's DNA. This test can identify mutations in the BTD gene that cause biotinidase deficiency. The NGS genetic DNA test is a highly accurate and reliable way to diagnose biotinidase deficiency.

What is the Cost of the NGS Genetic DNA Test for BTD Gene Biotinidase Deficiency?

The cost of the NGS genetic DNA test for BTD gene biotinidase deficiency is INR 20,000. This test is available at DNA Labs India, a leading provider of genetic testing services in India.

Conclusion

Biotinidase deficiency is a rare metabolic disorder that can cause a range of symptoms. Early diagnosis and treatment are essential to prevent complications. The NGS genetic DNA test is a highly accurate and reliable way to diagnose biotinidase deficiency. If you suspect that you or your child may have biotinidase deficiency, talk to your doctor about getting tested.

For more information on the NGS genetic DNA test for BTD gene biotinidase deficiency, contact DNA Labs India today.