Understanding MT-TP Gene and MERRF Syndrome
MT-TP gene is a mitochondrial gene that encodes for transfer RNA for the amino acid methionine. This gene plays a crucial role in the production of energy in the body. However, mutations in this gene can lead to various mitochondrial disorders, including MERRF syndrome.
MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a rare mitochondrial disorder that affects the nervous system. It is characterized by muscle twitches (myoclonus), seizures, ataxia (lack of muscle coordination), and muscle weakness. This condition is caused by mutations in the MT-TP gene, which affects the production of energy in the body.
Symptoms of MERRF Syndrome
The symptoms of MERRF syndrome can vary from person to person. Some common symptoms include:
- Myoclonus (muscle twitches)
- Seizures
- Ataxia (lack of muscle coordination)
- Muscle weakness
- Hearing loss
- Vision problems
- Developmental delays
The onset of symptoms usually occurs in childhood or early adulthood. The severity of symptoms can also vary, and some people may only experience mild symptoms, while others may be severely affected.
Diagnosis of MERRF Syndrome
Diagnosing MERRF syndrome can be challenging, as the symptoms can be similar to other conditions. However, genetic testing can help confirm a diagnosis. MT-TP related NGS Genetic Test is a type of genetic testing that can identify mutations in the MT-TP gene. This test analyzes the entire gene sequence, which makes it more accurate than other genetic tests.
If a person is suspected to have MERRF syndrome, their doctor may recommend genetic testing. The test involves taking a sample of blood or tissue and analyzing it in a laboratory. The results of the test can help confirm a diagnosis and guide treatment.
Cost of MT-TP Related NGS Genetic Test
The cost of MT-TP related NGS Genetic Test can vary depending on the laboratory and location. In India, the cost of this test is typically around INR 20,000.
Treatment of MERRF Syndrome
Currently, there is no cure for MERRF syndrome. Treatment focuses on managing symptoms and improving quality of life. Medications can be used to control seizures and muscle twitches. Physical therapy can also help improve muscle coordination and strength. In some cases, surgery may be necessary to correct vision or hearing problems.
Conclusion
MERRF syndrome is a rare mitochondrial disorder that affects the nervous system. It is caused by mutations in the MT-TP gene, which affects the production of energy in the body. Symptoms can vary and can be challenging to diagnose. However, genetic testing can help confirm a diagnosis. While there is no cure for MERRF syndrome, treatment can help manage symptoms and improve quality of life.
If you suspect that you or a loved one may have MERRF syndrome, it is essential to speak with a healthcare professional. They can help evaluate symptoms and recommend appropriate testing and treatment.
For more information on genetic testing for MERRF syndrome and other mitochondrial disorders, contact DNA Labs India.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for MT-TP Gene MERRF syndrome, MT-TP related NGS Genetic Test
| Test Name | MT-TP Gene MERRF syndrome, MT-TP 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-TP Gene MERRF syndrome, MT-TP related NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MT-TP Gene MERRF syndrome, MT-TP related NGS Genetic Test gene MT-TP |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for MT-TP Gene MERRF syndrome, MT-TP related NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MT-TP Gene MERRF syndrome, MT-TP related NGS Genetic Test gene MT-TP |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for MT-TP Gene MERRF syndrome, MT-TP 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.
