PEPD Gene Prolidase Deficiency NGS Genetic 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 Test for PEPD Gene Prolidase Deficiency
Next-generation sequencing (NGS) Genetic 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 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 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 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 Test
Test Name | PEPD Gene Prolidase deficiency NGS Genetic Test |
---|---|
Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
Test type | General Physician |
Pre-test Information | Clinical History of Patient who is going for PEPD Gene Prolidase deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Prolidase deficiency |
Disease | Metabolic Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for PEPD Gene Prolidase deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Prolidase deficiency |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PEPD Gene Prolidase deficiency NGS Genetic Test and the test costs a special discounted price of 20000 INR across India. The cities where this service is available include Mumbai, Delhi, Bangalore, Hyderabad, Ahmedabad, Chennai, Kolkata, Surat, Pune, Jaipur, Lucknow, Kanpur, Nagpur, Indore, Thane, Bhopal, Visakhapatnam, Pimpri-Chinchwad, Patna, Vadodara, Ghaziabad, Ludhiana, Agra, Nashik, Faridabad, Meerut, Rajkot, Kalyan-Dombivali, Vasai-Virar, Varanasi, Srinagar, Aurangabad, Dhanbad, Amritsar, Navi Mumbai, Prayagraj, Howrah, Ranchi, Jabalpur, Gwalior, Coimbatore, Vijayawada, Jodhpur, Madurai, Raipur, Kota, Guwahati, Chandigarh, Thiruvananthapuram, Solapur, Hubballi-Dharwad, Tiruchirappalli, Tiruppur, Moradabad, Mysore, Bareily, Gurgaon, Aligarh, Jalandhar, Bhubaneswar, Salem, Mira-Bhayandar, Warangal , Guntur , Bhiwandi, Saharanpur, Gorakhpur, Bikaner, Amravati, Noida, Jamshedpur, Bhilai, Cuttack, Firozabad, Kochi, Nellore , Bhavnagar, Dehradun, Durgapur, Asansol, Rourkela, Nanded, Kolhapur, Ajmer, Akola, Gulbarga, Jamnagar, Ujjain, Loni, Siliguri, Jhansi, Ulhasnagar, Jammu, Sangli-Miraj & Kupwad, Mangalore, Erode10, Belgaum, Ambattur, Tirunelveli, Malegaon, Gaya, Jalgaon, Udaipur, Maheshtala, Davanagere, Kozhikode, Kurnool, Rajpur Sonarpur, Rajahmundry , Bokaro, South Dumdum, Bellary, Patiala, Gopalpur, Agartala, Bhagalpur, Muzaffarnagar, Bhatpara, Panihati, Latur, Dhule, Tirupati , Rohtak, Korba, Bhilwara, Berhampur, Muzaffarpur, Ahmednagar, Mathura, Kollam, Avadi, Kadapa, Kamarhati, Sambalpur, Bilaspur, Shahjahanpur, Satara, Bijapur, Rampur, Shivamogga, Chandrapur, Junagadh, Thrissur, Alwar, Bardhaman, Kulti, Kakinada, Nizamabad, Parbhani, Tumkur, Khammam, Ozhukarai, Bihar Sharif, Panipat, Darbhanga, Bally, Aizawl, Dewas, Ichalkaranji, Karnal, Bathinda, Jalna, Eluru, Kirari Suleman Nagar, Barasat, Purnia, Satna, Mau, Sonipat, Farrukhabad, Sagar, Rourkela, Durg, Imphal, Ratlam, Hapur, Arrah, Karimnagar, Anantapur, Etawah, Ambernath, North Dumdum, Bharatpur, Begusarai, New Delhi, Gandhidham, Baranagar, Tiruvottiyur, Puducherry, Sikar, Thoothukudi, Rewa, Mirzapur, Raichur, Pali, Ramagundam , Haridwar, Vijayanagaram, Katihar, Nagarcoil, Sri Ganganagar, Karawal Nagar, Mango, Thanjavur, Bulandshahr, Uluberia, Murwara, Sambhal, Singrauli, Nadiad, Secunderabad, Naihati, Yamunanagar, Bidhan Nagar, Pallavaram, Bidar, Munger, Panchkula, Burhanpur, Raurkela Industrial Township, Kharagpur, Dindigul, Gandhinagar, Hospet, Nangloi Jat, Malda, Ongole, Deoghar, Chapra, Haldia, Khandwa, Nandyal, Chittoor , Morena, Amroha, Anand, Bhind, Bhalswa Jahangir Pur, Madhyamgram, Bhiwani, Navi Mumbai Panvel Raigad, Baharampur, Ambala, Morvi, Fatehpur, Rae Bareli, Khora, Bhusawal, Orai, Bahraich, Vellore, Mahesana, Sambalpur, Raiganj, Sirsa, Danapur, Serampore, Sultan Pur Majra, Guna, Jaunpur, Panvel, Shivpuri, Surendranagar Dudhrej, Unnao, Hugli and Chinsurah, Alappuzha, Kottayam, Machilipatnam, Shimla, Adoni, Tenali, Proddatur, Saharsa, Hindupur, Sasaram, Hajipur, Bhimavaram, Dehri, Madanapalle, Siwan, Bettiah, Guntakal, Srikakulam, Motihari, Dharmavaram, Gudivada, Narasaraopet, Bagaha, Miryalaguda, Tadipatri, Kishanganj, Karaikudi, Suryapet, Jamalpur, Kavali, Tadepalligudem, Amaravati, Buxar, Jehanabad, Aurangabad.