MT-TK Gene and MERRF Syndrome – Symptoms, Diagnosis and NGS Genetic Test Cost in India
MT-TK gene is a mitochondrial gene that encodes for a transfer RNA molecule that is responsible for the production of a protein called mitochondrial tRNA lysine. This protein plays a vital role in the production of energy in the body. Mutations in the MT-TK gene have been associated with several mitochondrial disorders, including MERRF syndrome.
What is MERRF Syndrome?
MERRF syndrome is a rare mitochondrial disorder that is caused by mutations in the MT-TK gene. The name MERRF stands for Myoclonic Epilepsy with Ragged Red Fibers. The condition is characterized by muscle twitches (myoclonus), seizures, and muscle weakness. Other symptoms may include hearing loss, ataxia, dementia, and optic atrophy.
Symptoms of MERRF Syndrome
The symptoms of MERRF syndrome can vary widely, but some of the most common symptoms include:
- Myoclonus (muscle twitches)
- Seizures
- Muscle weakness
- Hearing loss
- Ataxia (lack of coordination)
- Dementia
- Optic atrophy (damage to the optic nerve)
Diagnosis of MERRF Syndrome
Diagnosis of MERRF syndrome involves a combination of clinical evaluation, genetic testing, and muscle biopsy. A neurologist will evaluate the patient’s symptoms and perform a physical examination. Genetic testing can detect mutations in the MT-TK gene, and a muscle biopsy can confirm the presence of ragged red fibers in the muscle tissue, which is a characteristic feature of MERRF syndrome.
NGS Genetic Test Cost in India
The cost of NGS Genetic Testing for MT-TK gene mutations in India can vary depending on the laboratory and the specific test being performed. However, on average, the cost of an NGS Genetic Test for MT-TK gene mutations is around INR 20,000.
Conclusion
MERRF syndrome is a rare mitochondrial disorder that is caused by mutations in the MT-TK gene. Symptoms can vary widely, but may include myoclonus, seizures, muscle weakness, hearing loss, ataxia, dementia, and optic atrophy. Diagnosis involves a combination of clinical evaluation, genetic testing, and muscle biopsy. The cost of NGS Genetic Testing for MT-TK gene mutations in India is around INR 20,000. If you suspect that you or a loved one may have MERRF syndrome, it is important to speak with a healthcare professional for evaluation and testing.
Test Name | MT-TK Gene MERRF syndrome, MT-TK related NGS Genetic Test |
---|---|
Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
Test type | Dermatologist |
Pre-test Information | Clinical History of Patient who is going for MT-TK Gene MERRF syndrome, MT-TK related NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MT-TK Gene MERRF syndrome, MT-TK related NGS Genetic Test gene MT-TK |
Disease | Osteology Dermatology Immunology Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for MT-TK Gene MERRF syndrome, MT-TK related NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MT-TK Gene MERRF syndrome, MT-TK related NGS Genetic Test gene MT-TK |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for MT-TK Gene MERRF syndrome, MT-TK related 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.