UROS Gene Porphyria Congenital Erythropoietic NGS Genetic Test
Porphyria is a group of rare genetic disorders that affect the production of heme, a molecule that carries oxygen in the blood. One type of porphyria is congenital erythropoietic porphyria (CEP), which is caused by mutations in the UROS gene. CEP is a rare inherited disorder that affects the production of heme in the body. It is also known as Gunther’s disease.
Symptoms of CEP
The symptoms of CEP can vary from person to person, but they usually begin in early childhood. Some of the common symptoms of CEP include:
- Sensitivity to sunlight
- Blisters and sores on exposed skin
- Scarring and thickening of the skin
- Anemia
- Enlarged spleen
- Growth retardation
Diagnosis of CEP
CEP is diagnosed through a combination of physical examination, medical history, and genetic testing. The doctor will examine the skin and look for any signs of blisters, scarring, or thickening. Blood tests can also be done to check for anemia and to measure the levels of porphyrins in the blood. Genetic testing is the most definitive way to diagnose CEP.
NGS Genetic Test for CEP
The NGS Genetic Test for CEP is a genetic test that analyzes the UROS gene for mutations that can cause CEP. This test uses next-generation sequencing (NGS) technology to identify genetic variations in the UROS gene. The test is highly accurate and can detect even small genetic changes that can cause CEP.
Cost of NGS Genetic Test for CEP
The cost of the NGS Genetic Test for CEP in India is INR 20,000. The test is available at DNA Labs India, which is a leading provider of genetic testing services in India.
Conclusion
CEP is a rare genetic disorder that can cause a range of symptoms, including sensitivity to sunlight, anemia, and growth retardation. The NGS Genetic Test for CEP is a highly accurate genetic test that can detect mutations in the UROS gene that cause CEP. The test is available at DNA Labs India and costs INR 20,000. If you suspect that you or a loved one may have CEP, it is important to consult a doctor and undergo genetic testing to confirm the diagnosis.
For more information on the NGS Genetic Test for CEP or to schedule a consultation with a genetic counselor, please contact DNA Labs India.
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 UROS Gene Porphyria congenital erythropoietic NGS Genetic Test
Test Name | UROS Gene Porphyria congenital erythropoietic 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 UROS Gene Porphyria congenital erythropoietic NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Porphyria congenital erythropoietic |
Disease | Metabolic Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for UROS Gene Porphyria congenital erythropoietic NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Porphyria congenital erythropoietic |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for UROS Gene Porphyria congenital erythropoietic 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.