EARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 12 NGS Genetic Test – Cost, Symptoms, Diagnosis
Combined oxidative phosphorylation deficiency (COXPD) is a rare genetic disorder that affects the mitochondria, which are responsible for producing energy in cells. COXPD type 12 is caused by mutations in the EARS2 gene, which provides instructions for making an enzyme called mitochondrial glutamyl-tRNA synthetase.
If you or your loved ones are experiencing symptoms of COXPD type 12, it is important to get tested for the EARS2 gene mutation. DNA Labs India offers an NGS Genetic Test that can detect the EARS2 gene mutation at a cost of INR 20,000.
Symptoms of COXPD Type 12
The symptoms of COXPD type 12 can vary from person to person, but common symptoms include:
- Developmental delays
- Weak muscle tone (hypotonia)
- Difficulty with movement and coordination
- Seizures
- Encephalopathy (brain disease)
- Respiratory problems
- Feeding difficulties
- Growth problems
If you or your loved ones are experiencing any of these symptoms, it is important to speak with a healthcare provider and get tested for COXPD type 12.
Diagnosis of COXPD Type 12
COXPD type 12 can be diagnosed through genetic testing. DNA Labs India offers an NGS Genetic Test that can detect the EARS2 gene mutation at a cost of INR 20,000.
The NGS Genetic Test is a non-invasive test that requires a simple blood sample. The sample is analyzed in a laboratory to determine if there are any mutations in the EARS2 gene. The results of the test can help healthcare providers make an accurate diagnosis and develop an appropriate treatment plan.
The Importance of Genetic Testing
Genetic testing can provide valuable information for individuals and families affected by genetic disorders like COXPD type 12. It can help with early diagnosis, treatment, and management of the condition. It can also help individuals and families make informed decisions about family planning and genetic counseling.
If you or your loved ones are experiencing symptoms of COXPD type 12, it is important to speak with a healthcare provider and get tested for the EARS2 gene mutation. DNA Labs India offers an NGS Genetic Test that can detect the EARS2 gene mutation at a cost of INR 20,000. Contact us today to learn more about our genetic testing services.
Conclusion
COXPD type 12 is a rare genetic disorder that can cause a range of symptoms, including developmental delays, weak muscle tone, difficulty with movement and coordination, seizures, encephalopathy, respiratory problems, feeding difficulties, and growth problems. If you or your loved ones are experiencing any of these symptoms, it is important to speak with a healthcare provider and get tested for the EARS2 gene mutation. DNA Labs India offers an NGS Genetic Test that can detect the EARS2 gene mutation at a cost of INR 20,000. Genetic testing can provide valuable information for individuals and families affected by genetic disorders and can help with early diagnosis, treatment, and management of the condition. Contact DNA Labs India today to learn more about our genetic testing services.
| Test Name | EARS2 Gene Combined oxidative phosphorylation deficiency type 12 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 EARS2 Gene Combined oxidative phosphorylation deficiency type 12 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 12 |
| Disease | Metabolic Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for EARS2 Gene Combined oxidative phosphorylation deficiency type 12 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 12 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for EARS2 Gene Combined oxidative phosphorylation deficiency type 12 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.
