Understanding NAGS Gene and N-acetylglutamate synthase deficiency
N-acetylglutamate synthase (NAGS) deficiency is a rare genetic disorder that affects the body’s ability to produce urea. This disorder is caused by mutations in the NAGS gene that provides instructions for making the N-acetylglutamate synthase enzyme.
The N-acetylglutamate synthase enzyme is responsible for the production of N-acetylglutamate (NAG), which is essential for the breakdown of ammonia in the body. Ammonia is a waste product that is produced when the body breaks down protein. In individuals with NAGS deficiency, the accumulation of ammonia in the body can lead to serious health problems, including brain damage, coma, and death.
Symptoms of NAGS Gene and N-acetylglutamate synthase deficiency
The symptoms of NAGS deficiency can vary depending on the severity of the condition. Some individuals may experience mild symptoms, while others may have more severe symptoms that can be life-threatening. Some of the common symptoms of NAGS deficiency include:
- Decreased appetite
- Vomiting
- Lethargy
- Seizures
- Developmental delays
- Intellectual disability
- Coma
Diagnosis of NAGS Gene and N-acetylglutamate synthase deficiency
The diagnosis of NAGS deficiency is typically made through genetic testing. This test looks for mutations in the NAGS gene that are associated with the condition. In some cases, a blood test may also be done to measure the levels of ammonia in the blood.
NGS Genetic Test cost INR:20000
The cost of NGS Genetic Test for NAGS Gene and N-acetylglutamate synthase deficiency in India is around INR 20,000. This test is performed by DNA Labs India, a leading genetic testing laboratory in India. The test involves analyzing the DNA sample of the individual to look for mutations in the NAGS gene that are associated with NAGS deficiency.
It is important to note that not all genetic testing laboratories are created equal. DNA Labs India uses state-of-the-art technology and employs highly trained geneticists to ensure accurate and reliable results. They also offer genetic counseling services to help individuals and families understand their test results and make informed decisions about their health.
Conclusion
NAGS Gene and N-acetylglutamate synthase deficiency is a rare genetic disorder that can have serious health consequences if left untreated. Genetic testing is an important tool for diagnosing this condition and identifying individuals who may be at risk. If you or a loved one is experiencing symptoms of NAGS deficiency, it is important to speak with a healthcare provider and consider genetic testing to get an accurate diagnosis and appropriate treatment.
With DNA Labs India, you can get reliable and accurate results for NGS Genetic Test for NAGS Gene and N-acetylglutamate synthase deficiency at an affordable cost. Contact DNA Labs India today to learn more about their genetic testing services and how they can help you.
Test Name | NAGS Gene N-acetylglutamate synthase 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 NAGS Gene N-acetylglutamate synthase deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with N-acetylglutamate synthase deficiency |
Disease | Metabolic Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for NAGS Gene N-acetylglutamate synthase deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with N-acetylglutamate synthase deficiency |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for NAGS Gene N-acetylglutamate synthase 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.