Short Description

NGS genetic DNA test detecets for variant and mutation detection in ALDH6A1 gene for Methylmalonate semialdehyde dehydrogenase deficiency

PreTest Information

Clinical History of Patient who is going for ALDH6A1 Gene Methylmalonate semialdehyde dehydrogenase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Methylmalonate semialdehyde dehydrogenase deficiency

Detail Description

ALDH6A1 Gene Methylmalonate Semialdehyde Dehydrogenase Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

ALDH6A1 gene methylmalonate semialdehyde dehydrogenase deficiency is a rare genetic disorder that affects the body's ability to break down certain amino acids and fats. This disorder is caused by mutations in the ALDH6A1 gene, which provides instructions for making an enzyme called methylmalonate semialdehyde dehydrogenase. This enzyme helps to break down a substance called methylmalonate semialdehyde, which is produced when the body processes certain amino acids and fats. When this process is disrupted, it can lead to a buildup of toxic substances in the body, which can cause a range of symptoms.

Symptoms of ALDH6A1 Gene Methylmalonate Semialdehyde Dehydrogenase Deficiency

The symptoms of ALDH6A1 gene methylmalonate semialdehyde dehydrogenase deficiency can vary widely from person to person, but may include:

• Developmental delays
• Muscle weakness
• Seizures
• Abnormal movements
• Intellectual disability
• Behavioral problems
• Difficulty walking
• Abnormal liver function tests

Diagnosis of ALDH6A1 Gene Methylmalonate Semialdehyde Dehydrogenase Deficiency

ALDH6A1 gene methylmalonate semialdehyde dehydrogenase deficiency can be diagnosed through genetic testing. This involves analyzing a person's DNA to look for mutations in the ALDH6A1 gene. Genetic testing can be done using a variety of methods, including:

• Next-generation sequencing (NGS)
• Sanger sequencing
• PCR-based methods

NGS is a high-throughput method that allows for the analysis of multiple genes at once. It is a powerful tool for genetic diagnosis and can help to identify mutations that may be missed using other methods.

Cost of ALDH6A1 Gene Methylmalonate Semialdehyde Dehydrogenase Deficiency NGS Genetic DNA Test

The cost of ALDH6A1 gene methylmalonate semialdehyde dehydrogenase deficiency NGS genetic DNA test can vary depending on the laboratory that performs the test. In India, the cost of this test is typically around INR 20000. This cost may be covered by insurance in some cases.

Conclusion

ALDH6A1 gene methylmalonate semialdehyde dehydrogenase deficiency is a rare genetic disorder that can cause a range of symptoms. Diagnosis of this condition can be done through genetic testing, including NGS. The cost of this test can vary, but is typically around INR 20000 in India. If you or someone you know is experiencing symptoms of ALDH6A1 gene methylmalonate semialdehyde dehydrogenase deficiency, it is important to speak with a healthcare provider to determine the best course of action.

At DNA Labs India, we offer a variety of genetic testing services, including NGS testing for ALDH6A1 gene methylmalonate semialdehyde dehydrogenase deficiency. Our team of experts is dedicated to providing accurate and reliable genetic testing services to help diagnose and manage genetic conditions. Contact us today to learn more about our services.