ETHE1 Gene Ethylmalonic Encephalopathy NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
ETHE1 gene is responsible for the production of a protein that helps in the breaking down of certain amino acids in the body. Ethylmalonic encephalopathy is a rare genetic disorder that results from the mutations in the ETHE1 gene. This disorder affects the nervous system, leading to developmental delay, seizures, and muscle weakness.
Symptoms of Ethylmalonic Encephalopathy
The symptoms of ethylmalonic encephalopathy vary from person to person. Some of the common symptoms of this disorder include:
- Developmental delay
- Seizures
- Muscle weakness
- Loss of muscle tone
- Ataxia
- Abnormal movements
Diagnosis of Ethylmalonic Encephalopathy
The diagnosis of ethylmalonic encephalopathy involves a combination of clinical examination, imaging studies, and genetic testing. The doctor will perform a physical exam to look for the symptoms of this disorder. They may also order imaging studies, such as an MRI or CT scan, to look for abnormalities in the brain.
Genetic testing is the most reliable method for the diagnosis of ethylmalonic encephalopathy. Next-generation sequencing (NGS) Genetic Testing is a highly accurate and efficient method for detecting mutations in the ETHE1 gene. This test involves the sequencing of the entire ETHE1 gene to identify any mutations that may be present.
Cost of NGS Genetic Test for Ethylmalonic Encephalopathy
The cost of NGS Genetic Testing for ethylmalonic encephalopathy in India is around INR 20,000. However, the cost may vary depending on the testing facility and the location.
Conclusion
Ethylmalonic encephalopathy is a rare genetic disorder that affects the nervous system and leads to developmental delay, seizures, and muscle weakness. Genetic testing is the most reliable method for the diagnosis of this disorder, and NGS Genetic Testing is an efficient and accurate method for detecting mutations in the ETHE1 gene. The cost of NGS Genetic Testing for ethylmalonic encephalopathy in India is around INR 20,000.
It is important to diagnose this disorder early to ensure proper treatment and management. DNA Labs India offers NGS Genetic Testing for ethylmalonic encephalopathy and other genetic disorders. Contact us today for more information.
Test Name | ETHE1 Gene Ethylmalonic encephalopathy 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 ETHE1 Gene Ethylmalonic encephalopathy NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with ETHE1 Gene Ethylmalonic encephalopathy |
Disease | Neurological Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for ETHE1 Gene Ethylmalonic encephalopathy NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with ETHE1 Gene Ethylmalonic encephalopathy |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ETHE1 Gene Ethylmalonic encephalopathy 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.