Short Description

NGS genetic DNA test detecets for variant and mutation detection in BCAT1 gene for Branched-chain aminotransferase 1 deficiency

PreTest Information

Clinical History of Patient who is going for BCAT1 Gene Branched-chain aminotransferase 1 deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Branched-chain aminotransferase 1 deficiency

Detail Description

BCAT1 Gene Branched-chain aminotransferase 1 Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

BCAT1 gene Branched-chain aminotransferase 1 deficiency is a rare genetic disorder that affects the body's ability to break down certain amino acids. This can lead to a buildup of toxic substances in the blood and cause a range of symptoms. DNA Labs India offers an NGS Genetic DNA Test that can diagnose BCAT1 gene Branched-chain aminotransferase 1 deficiency. This blog will cover the symptoms, diagnosis, and cost of the test.

Symptoms

Symptoms of BCAT1 gene Branched-chain aminotransferase 1 deficiency can vary and may not appear until several months after birth. Common symptoms include:

• Poor feeding
• Vomiting
• Developmental delay
• Low muscle tone
• Seizures

These symptoms can be severe and may require hospitalization. If left untreated, BCAT1 gene Branched-chain aminotransferase 1 deficiency can lead to intellectual disability and other complications.

Diagnosis

The NGS Genetic DNA Test offered by DNA Labs India can diagnose BCAT1 gene Branched-chain aminotransferase 1 deficiency. This test uses next-generation sequencing technology to analyze the patient's DNA and identify mutations in the BCAT1 gene. The test is non-invasive and requires only a small blood sample.

If the test results are positive, the patient may need further testing to confirm the diagnosis and determine the severity of the condition. This may include additional blood tests, imaging studies, and consultations with specialists.

Cost

The cost of the NGS Genetic DNA Test for BCAT1 gene Branched-chain aminotransferase 1 deficiency is INR 20000. This includes the cost of the test, analysis of the results, and a consultation with a genetic counselor to discuss the implications of the diagnosis.

While this may seem expensive, early diagnosis can help prevent complications and improve the patient's quality of life. Additionally, DNA Labs India offers financing options and may be able to work with insurance companies to cover the cost of the test.

Conclusion

BCAT1 gene Branched-chain aminotransferase 1 deficiency is a rare genetic disorder that can have serious consequences if left untreated. The NGS Genetic DNA Test offered by DNA Labs India can diagnose the condition and help patients receive early treatment. The cost of the test may seem high, but it is a small price to pay for improved health outcomes and a better quality of life.