Short Description

NGS genetic DNA test detecets for variant and mutation detection in ALDH4A1 gene for Hyperprolinemia type 2

PreTest Information

Clinical History of Patient who is going for ALDH4A1 Gene Hyperprolinemia type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperprolinemia type 2

Detail Description

ALDH4A1 Gene Hyperprolinemia Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

ALDH4A1 Gene Hyperprolinemia Type 2 is a rare genetic disorder that affects the metabolism of proline in the body. This genetic condition is caused by mutations in the ALDH4A1 gene which encodes the enzyme delta-1-pyrroline-5-carboxylate dehydrogenase (P5CDH). P5CDH is involved in the breakdown of proline, an amino acid found in many proteins in the body. When there is a mutation in the ALDH4A1 gene, the body is unable to properly break down proline, leading to an accumulation of proline in the blood and urine.

Symptoms of ALDH4A1 Gene Hyperprolinemia Type 2

The symptoms of ALDH4A1 Gene Hyperprolinemia Type 2 can vary widely between individuals. Some people may have no symptoms at all, while others may experience mild to severe symptoms. The most common symptoms of ALDH4A1 Gene Hyperprolinemia Type 2 include:

• Developmental delays
• Intellectual disability
• Seizures
• Behavioral problems
• Psychiatric disorders
• Abnormal movements
• Ataxia
• Speech and language difficulties
• Delayed motor skills

Diagnosis of ALDH4A1 Gene Hyperprolinemia Type 2

ALDH4A1 Gene Hyperprolinemia Type 2 is diagnosed through genetic testing. A blood sample is taken from the individual and analyzed for mutations in the ALDH4A1 gene. Next-generation sequencing (NGS) is a powerful tool used to detect mutations in genes associated with genetic disorders. The cost of the ALDH4A1 Gene Hyperprolinemia Type 2 NGS Genetic DNA Test is INR 20000.

Treatment of ALDH4A1 Gene Hyperprolinemia Type 2

There is currently no cure for ALDH4A1 Gene Hyperprolinemia Type 2. Treatment is focused on managing the symptoms of the disorder. Seizures can be controlled with anticonvulsant medications. Behavioral and psychiatric problems can be treated with therapy and medication. Physical therapy can help with motor skill delays.

Conclusion

ALDH4A1 Gene Hyperprolinemia Type 2 is a rare genetic disorder that affects the metabolism of proline in the body. The symptoms of this disorder can vary widely between individuals. The disorder is diagnosed through genetic testing using NGS technology, which costs INR 20000. While there is no cure for ALDH4A1 Gene Hyperprolinemia Type 2, treatment is available to manage the symptoms of the disorder.

At DNA Labs India, we offer the ALDH4A1 Gene Hyperprolinemia Type 2 NGS Genetic DNA Test at an affordable cost. Our team of experts can help you understand the test results and provide guidance on treatment options. Contact us today to schedule your test.