UROC1 Gene Urocanase Deficiency NGS Genetic Test Cost INR: 20000 Symptoms Diagnosis
Urocanase deficiency is a rare genetic disorder that affects the UROC1 gene. This gene provides instructions for making an enzyme called urocanase, which is involved in the breakdown of histidine, an amino acid found in many proteins. Urocanase deficiency leads to the accumulation of toxic byproducts in the body, which can cause a variety of symptoms.
Symptoms of Urocanase Deficiency
The symptoms of urocanase deficiency can vary widely depending on the severity of the disorder. Some common symptoms include:
- Neurological problems such as seizures, intellectual disability, and developmental delay
- Behavioral problems such as aggression and hyperactivity
- Skin lesions that may be itchy or painful
- Urinary problems such as frequent urination and bedwetting
- Joint pain and stiffness
- Eye problems such as cataracts and vision loss
Diagnosis of Urocanase Deficiency
Urocanase deficiency is diagnosed through a genetic test that looks for mutations in the UROC1 gene. This test is typically performed using next-generation sequencing (NGS) technology, which allows for rapid and accurate analysis of multiple genes at once. The cost of a NGS Genetic Test for urocanase deficiency is typically around INR 20000.
If a genetic mutation is identified, additional testing may be necessary to confirm the diagnosis and assess the severity of the disorder. This may include blood tests, urine tests, and imaging studies such as an MRI or CT scan.
Treatment of Urocanase Deficiency
There is currently no cure for urocanase deficiency, and treatment is focused on managing the symptoms of the disorder. This may include:
- Medications to control seizures, behavioral problems, and pain
- Dietary changes to avoid histidine-rich foods
- Skin care to manage lesions
- Physical therapy to manage joint pain and stiffness
Conclusion
Urocanase deficiency is a rare genetic disorder that can cause a wide range of symptoms. Diagnosis is typically made through a genetic test using NGS technology, which can cost around INR 20000. While there is currently no cure for urocanase deficiency, treatment can help manage the symptoms of the disorder.
If you suspect that you or a loved one may have urocanase deficiency, it is important to speak with a genetic counselor or healthcare provider for guidance and support.
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 UROC1 Gene Urocanase deficiency NGS Genetic Test
Test Name | UROC1 Gene Urocanase deficiency NGS Genetic Test |
---|---|
Sample type | Blood or Extracted DNA or One drop Blood on FTA Card o |
Test type | Neurologist |
Pre-test Information | Clinical History of Patient who is going for UROC1 Gene Urocanase deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with UROC1 Gene Urocanase deficiency |
Disease | Neurological Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for UROC1 Gene Urocanase deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with UROC1 Gene Urocanase deficiency |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for UROC1 Gene Urocanase 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.