Short Description

NGS genetic DNA test detecets for variant and mutation detection in ALDH7A1 gene for Pyridoxine-dependent epilepsy

PreTest Information

Clinical History of Patient who is going for ALDH7A1 Gene Pyridoxine-dependent epilepsy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ALDH7A1 Gene Pyridoxine-dependent epilepsy

Detail Description

ALDH7A1 Gene Pyridoxine-dependent epilepsy NGS Genetic DNA Test cost

Pyridoxine-dependent epilepsy is a rare genetic disorder that affects infants and young children. It is caused by mutations in the ALDH7A1 gene, which is responsible for breaking down a specific amino acid called L-lysine. When this gene is mutated, it leads to a buildup of toxic metabolites in the brain, which can cause seizures and other neurological problems.

Symptoms of Pyridoxine-dependent epilepsy

The symptoms of pyridoxine-dependent epilepsy can vary from person to person, but they typically include:

• Seizures
• Developmental delay
• Intellectual disability
• Abnormal movements
• Behavioral problems

These symptoms usually appear within the first few months of life, and they can be severe. Without proper treatment, pyridoxine-dependent epilepsy can lead to permanent brain damage and even death.

Diagnosis of Pyridoxine-dependent epilepsy

The diagnosis of pyridoxine-dependent epilepsy is typically made through genetic testing. Specifically, a Next-Generation Sequencing (NGS) test can be used to analyze the ALDH7A1 gene for mutations. This test is highly accurate and can detect even small genetic changes that may be responsible for the disorder. Additionally, a blood test can be done to measure the levels of specific metabolites in the body, which can help confirm the diagnosis.

ALDH7A1 Gene Pyridoxine-dependent epilepsy NGS Genetic DNA Test cost

The cost of an ALDH7A1 Gene Pyridoxine-dependent epilepsy NGS Genetic DNA Test can vary depending on the provider and the location. In India, the cost of this test is typically around INR 20,000. However, some insurance plans may cover the cost of genetic testing for certain conditions, so it is important to check with your provider to see if this test is covered.

Conclusion

Pyridoxine-dependent epilepsy is a rare but serious genetic disorder that can cause seizures and other neurological problems. Early diagnosis through genetic testing can help ensure that affected individuals receive proper treatment, which can improve their outcomes. If you or someone you know is experiencing symptoms of pyridoxine-dependent epilepsy, talk to a healthcare provider about the possibility of genetic testing.

For more information, please visit DNA Labs India.

Pyridoxine-dependent epilepsy (PDE) is a rare genetic disorder that is characterized by seizures that are resistant to typical antiepileptic medications but are responsive to pyridoxine (vitamin B6) supplementation. PDE is caused by mutations in the ALDH7A1 gene, which encodes the enzyme alpha-aminoadipic semialdehyde dehydrogenase (antiquitin). This enzyme is involved in the breakdown of certain amino acids in the brain.