Short Description

NGS genetic DNA test detecets for variant and mutation detection in BCKDHA gene for Maple syrup urine disease type 1a

PreTest Information

Clinical History of Patient who is going for BCKDHA Gene Maple syrup urine disease type 1a NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Maple syrup urine disease type 1a

Detail Description

BCKDHA Gene Maple Syrup Urine Disease Type 1A NGS Genetic DNA Test Cost INR:20,000 Symptoms Diagnosis

Maple Syrup Urine Disease (MSUD) is a rare genetic disorder that affects the body's ability to break down certain amino acids. This disorder is caused by mutations in the BCKDHA gene, which is responsible for producing an enzyme that helps break down these amino acids. When the enzyme is not produced correctly, these amino acids can build up in the body and cause a range of symptoms.

Symptoms of Maple Syrup Urine Disease

The symptoms of MSUD can vary from mild to severe and can appear shortly after birth. Some of the common symptoms of MSUD include:

• Difficulty feeding
• Vomiting
• Poor weight gain
• Weakness
• Lethargy
• Seizures
• Coma
• Maple syrup smell in urine and sweat

Diagnosis of Maple Syrup Urine Disease

MSUD can be diagnosed through genetic testing. The BCKDHA gene can be analyzed through Next-Generation Sequencing (NGS) technology, which can detect mutations in the gene. Diagnosis of MSUD is important, as early detection and treatment can help prevent severe symptoms and improve outcomes.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for the BCKDHA gene is INR 20,000 in India. This test is available at DNA Labs India, a leading genetic testing laboratory in the country. The test can be performed on a blood or saliva sample and results are typically available within 2-3 weeks.

Conclusion

Maple Syrup Urine Disease is a rare genetic disorder that can cause severe symptoms if left untreated. Diagnosis of MSUD through genetic testing is important, as it can help identify the condition early and allow for prompt treatment. The NGS genetic DNA test for the BCKDHA gene is available at DNA Labs India for INR 20,000 and can provide accurate results within a few weeks.

If you suspect that you or a loved one may have MSUD or have a family history of the condition, it is important to speak with a genetic counselor and consider genetic testing.

For more information on genetic testing and counseling, visit DNA Labs India's website.