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 Prolidase deficiency

Detail Description

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

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

Symptoms of PEPD Gene Prolidase Deficiency

The symptoms of PEPD gene prolidase deficiency can vary from mild to severe, and may include:

• Skin ulcers
• Joint pain and stiffness
• Recurrent infections
• Developmental delays
• Intellectual disability

These symptoms may not be present at birth, but can develop over time. In severe cases, PEPD gene prolidase deficiency can lead to life-threatening complications.

Diagnosis of PEPD Gene Prolidase Deficiency

PEPD gene prolidase deficiency can be diagnosed through genetic testing. This involves analyzing a sample of the patient's DNA to look for mutations in the PEPD gene. Genetic testing can confirm a diagnosis and help determine the severity of the condition.

Other diagnostic tests may also be performed to help identify the presence of PEPD gene prolidase deficiency, including:

• Skin biopsy
• Blood tests
• X-rays

It is important to consult a genetic counselor or healthcare provider for guidance on testing and diagnosis.

NGS Genetic DNA Test for PEPD Gene Prolidase Deficiency

Next-generation sequencing (NGS) genetic DNA testing is a highly accurate and advanced method for diagnosing PEPD gene prolidase deficiency. NGS technology can analyze multiple genes simultaneously, allowing for more efficient and comprehensive testing.

NGS genetic DNA testing for PEPD gene prolidase deficiency typically costs around INR 20,000 in India. However, the cost may vary depending on the specific testing laboratory and healthcare provider.

Conclusion

PEPD gene prolidase deficiency is a rare genetic disorder that can cause a range of symptoms, from mild to severe. Genetic testing, including NGS genetic DNA testing, can accurately diagnose this condition and help guide treatment. If you or a loved one are experiencing symptoms of PEPD gene prolidase deficiency, it is important to consult a healthcare provider for guidance on testing and diagnosis.

For more information on NGS genetic DNA testing for PEPD gene prolidase deficiency, contact DNA Labs India today.

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 PEPD Gene Prolidase deficiency NGS Genetic DNA Test