XDH Gene Xanthinuria Type 1 NGS Genetic Test
Xanthinuria is a rare genetic disorder that affects the metabolism of purines, which are the building blocks of DNA. This disorder is caused by mutations in the XDH gene, which encodes the enzyme xanthine dehydrogenase. Xanthine dehydrogenase is responsible for breaking down purines into uric acid, which is then excreted from the body.
In Xanthinuria type 1, there is a deficiency of xanthine dehydrogenase, which leads to the accumulation of xanthine and hypoxanthine in the body. This can cause a variety of symptoms, including kidney stones, muscle weakness, and joint pain.
Symptoms of Xanthinuria Type 1
The symptoms of Xanthinuria type 1 can vary from person to person, but some of the most common symptoms include:
- Kidney stones
- Muscle weakness
- Joint pain
- Yellowish discoloration of the eyes and skin
- Developmental delay
Diagnosis of Xanthinuria Type 1
Xanthinuria type 1 is diagnosed through a combination of clinical evaluation and genetic testing. A healthcare provider will evaluate a patient’s symptoms and medical history to determine if they may have Xanthinuria type 1.
If Xanthinuria type 1 is suspected, a genetic test can be performed to confirm the diagnosis. The XDH gene can be analyzed using next-generation sequencing (NGS) technology, which can identify mutations in the gene that may be causing the disorder.
NGS Genetic Test Cost
The cost of an NGS Genetic Test for Xanthinuria type 1 can vary depending on the testing facility. At DNA Labs India, the cost of this test is INR 20,000.
Conclusion
Xanthinuria type 1 is a rare genetic disorder that can cause a variety of symptoms, including kidney stones, muscle weakness, and joint pain. If you or someone you know is experiencing these symptoms, it is important to speak with a healthcare provider and consider genetic testing. DNA Labs India offers an NGS Genetic Test for Xanthinuria type 1 at a cost of INR 20,000.
Early diagnosis and treatment can help manage the symptoms of Xanthinuria type 1 and improve quality of life for those affected by this disorder.
For more information on Xanthinuria type 1 or genetic testing, please contact DNA Labs India.
Test Name | XDH Gene Xanthinuria type 1 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 XDH Gene Xanthinuria type 1 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Xanthinuria type 1 |
Disease | Metabolic Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for XDH Gene Xanthinuria type 1 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Xanthinuria type 1 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for XDH Gene Xanthinuria type 1 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.