CA5A Gene Hyperammonemia due to Carbonic Anhydrase VA Deficiency NGS Genetic Test
CA5A Gene Hyperammonemia due to Carbonic Anhydrase VA Deficiency is a rare genetic disorder caused by a mutation in the CA5A gene. This mutation results in the deficiency of Carbonic Anhydrase VA, which is an enzyme responsible for the breakdown of ammonia in the body. As a result, ammonia levels in the blood increase, leading to a condition called hyperammonemia.
Symptoms of CA5A Gene Hyperammonemia due to Carbonic Anhydrase VA Deficiency
The symptoms of CA5A Gene Hyperammonemia due to Carbonic Anhydrase VA Deficiency can vary depending on the severity of the condition. Some common symptoms include:
- Developmental delay
- Seizures
- Decreased muscle tone
- Feeding difficulties
- Progressive neurological deterioration
Diagnosis of CA5A Gene Hyperammonemia due to Carbonic Anhydrase VA Deficiency
CA5A Gene Hyperammonemia due to Carbonic Anhydrase VA Deficiency can be diagnosed through genetic testing. Next-generation sequencing (NGS) Genetic Testing can identify mutations in the CA5A gene. This test can be performed on a blood or saliva sample.
Cost of CA5A Gene Hyperammonemia due to Carbonic Anhydrase VA Deficiency NGS Genetic Test
The cost of the CA5A Gene Hyperammonemia due to Carbonic Anhydrase VA Deficiency NGS Genetic Test in India is INR 20,000.
Conclusion
CA5A Gene Hyperammonemia due to Carbonic Anhydrase VA Deficiency is a rare genetic disorder that can cause developmental delays, seizures, and other neurological symptoms. NGS Genetic Testing can diagnose this condition, and the cost of the test is INR 20,000 in India. Early diagnosis and treatment can improve outcomes for individuals with this condition.
| Test Name | CA5A Gene Hyperammonemia due to carbonic anhydrase VA 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 CA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperammonemia due to carbonic anhydrase VA deficiency |
| Disease | Metabolic Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for CA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperammonemia due to carbonic anhydrase VA deficiency |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for CA5A Gene Hyperammonemia due to carbonic anhydrase VA 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.
