Short Description

NGS genetic DNA test detecets for variant and mutation detection in PRODH gene for Hyperprolinemia type 1

PreTest Information

Clinical History of Patient who is going for PRODH Gene Hyperprolinemia type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperprolinemia type 1

Detail Description

PRODH Gene Hyperprolinemia type 1 NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Are you or someone you know experiencing symptoms such as seizures, intellectual disability, and behavioral problems? These symptoms could be indicative of Hyperprolinemia type 1, a rare genetic disorder caused by a mutation in the PRODH gene.

The PRODH gene is responsible for producing an enzyme called proline dehydrogenase, which breaks down the amino acid proline. When the PRODH gene is mutated, the enzyme is not produced in sufficient quantities, leading to an accumulation of proline in the body. This, in turn, leads to the symptoms associated with Hyperprolinemia type 1.

Symptoms of Hyperprolinemia type 1

Hyperprolinemia type 1 is a rare disorder, and not all individuals with a mutation in the PRODH gene will experience symptoms. However, those who do may experience:

• Seizures
• Intellectual disability
• Behavioral problems
• Developmental delays
• Abnormal muscle tone
• Speech and language delays

These symptoms can vary in severity, and some individuals may only experience mild symptoms.

Diagnosing Hyperprolinemia type 1

Diagnosing Hyperprolinemia type 1 can be challenging, as the symptoms associated with the disorder are also present in many other conditions. However, a genetic test can confirm a diagnosis of Hyperprolinemia type 1.

NGS Genetic DNA Test is a type of genetic test that uses Next-Generation Sequencing (NGS) technology to analyze a patient's DNA for mutations in the PRODH gene. This test can accurately identify mutations that cause Hyperprolinemia type 1, allowing for an accurate diagnosis.

The cost of NGS Genetic DNA Test for Hyperprolinemia type 1

The cost of NGS Genetic DNA Test for Hyperprolinemia type 1 varies depending on the laboratory that performs the test. DNA Labs India offers this test for INR 20,000. This cost includes the analysis of the patient's DNA and the interpretation of the results by a team of genetic counselors and medical professionals.

Conclusion

Hyperprolinemia type 1 is a rare genetic disorder that can cause a range of symptoms, including seizures, intellectual disability, and behavioral problems. A genetic test, such as NGS Genetic DNA Test, can accurately diagnose the disorder, allowing for appropriate treatment and management. If you or someone you know is experiencing symptoms of Hyperprolinemia type 1, consider speaking with a healthcare professional about genetic testing.

At DNA Labs India, we offer a range of genetic tests, including NGS Genetic DNA Test for Hyperprolinemia type 1. Our team of genetic counselors and medical professionals are dedicated to providing accurate and timely results to our patients. Contact us today to learn more about our services.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for PRODH Gene Hyperprolinemia type 1 NGS Genetic DNA Test