Short Description

NGS genetic DNA test detecets for variant and mutation detection in PEPD gene for Prolidase deficiency

PreTest Information

Clinical History of Patient who is going for PEPD Gene Prolidase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PEPD Gene Prolidase deficiency NGS Genetic DNA Test gene PEPD

Detail Description

PEPD Gene Prolidase Deficiency: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

PEPD gene prolidase deficiency is a rare genetic disorder that affects the body's ability to break down certain proteins. This condition is caused by mutations in the PEPD gene, which provides instructions for making the prolidase enzyme that is involved in the breakdown of proteins.

Symptoms of PEPD Gene Prolidase Deficiency

The symptoms of PEPD gene prolidase deficiency can vary widely from person to person. Some individuals may have no symptoms at all, while others may experience severe symptoms that can affect their quality of life.

Common symptoms of PEPD gene prolidase deficiency include:

• Delayed development
• Intellectual disability
• Recurrent infections
• Abnormal skin pigmentation
• Joint pain and stiffness
• Increased susceptibility to sunburn
• Wounds that heal slowly

Diagnosis of PEPD Gene Prolidase Deficiency

PEPD gene prolidase deficiency can be diagnosed through a variety of tests, including genetic testing and enzyme activity testing. Genetic testing involves analyzing a person's DNA to look for mutations in the PEPD gene, while enzyme activity testing measures the amount of prolidase enzyme in a person's blood or other body fluids.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing for PEPD gene prolidase deficiency in India can vary depending on the laboratory and the specific tests being performed. On average, the cost of NGS genetic DNA testing for PEPD gene prolidase deficiency in India is around INR 20,000.

Conclusion

PEPD gene prolidase deficiency is a rare genetic disorder that can cause a range of symptoms, including delayed development, intellectual disability, and joint pain. Diagnosis of this condition involves genetic testing and enzyme activity testing, and the cost of NGS genetic DNA testing in India is around INR 20,000. If you or a loved one are experiencing symptoms of PEPD gene prolidase deficiency, it is important to speak with a healthcare professional for proper diagnosis and treatment.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for PEPD gene prolidase deficiency. Contact us today to learn more about our services and how we can help.