DYSF Gene Miyoshi Myopathy NGS Genetic Test Cost INR: 20000 Symptoms Diagnosis
Miyoshi myopathy is a rare genetic disorder that affects skeletal muscles. It is caused by mutations in the DYSF gene that is responsible for encoding a protein called dysferlin. Dysferlin is a vital component of muscle cell membranes, and its deficiency leads to muscle weakness and wasting. The disease is named after Dr. Kiyoshi Miyoshi, a Japanese neurologist who first described it in 1967.
Symptoms of Miyoshi Myopathy
The symptoms of Miyoshi myopathy usually appear in early adulthood, typically between the ages of 15 to 30. The most common symptom is muscle weakness and wasting in the calves, followed by the thighs, buttocks, and shoulders. The disease progresses slowly, and the weakness becomes more severe over time. Other symptoms may include:
- Difficulty rising from a sitting or lying position
- Difficulty walking or running
- Pain and stiffness in the muscles
- Elevated levels of creatine kinase in the blood
Diagnosis of Miyoshi Myopathy
Diagnosis of Miyoshi myopathy involves a combination of clinical evaluation, genetic testing, and muscle biopsy. The doctor will first evaluate the patient’s symptoms and medical history and conduct a physical examination. Blood tests may be performed to check for elevated levels of creatine kinase, a muscle enzyme that is released when muscle fibers are damaged.
Genetic testing is essential for confirming the diagnosis of Miyoshi myopathy. The DYSF gene is analyzed using next-generation sequencing (NGS) technology to identify mutations. NGS is a high-throughput method that can sequence multiple genes simultaneously and is highly accurate.
Muscle biopsy may also be performed to examine the muscle tissue under a microscope. This can help to confirm the diagnosis and rule out other muscle disorders.
DYSF Gene Miyoshi Myopathy NGS Genetic Test Cost INR: 20000
The cost of the DYSF gene Miyoshi myopathy NGS Genetic Test in India is around INR 20000. This test is available at various DNA labs in India and can be ordered by a doctor or genetic counselor. The test involves collecting a blood or saliva sample from the patient, which is sent to the lab for analysis. The results are usually available within a few weeks.
Conclusion
Miyoshi myopathy is a rare genetic disorder that affects skeletal muscles and is caused by mutations in the DYSF gene. The disease is characterized by muscle weakness and wasting, which typically appears in early adulthood. Diagnosis involves a combination of clinical evaluation, genetic testing, and muscle biopsy. The DYSF gene Miyoshi myopathy NGS Genetic Test is available in India at a cost of around INR 20000 and can help to confirm the diagnosis.
Test Name | DYSF Gene Miyoshi myopathy 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 DYSF Gene Miyoshi myopathy NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with DYSF Gene Miyoshi myopathy |
Disease | Neurological Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for DYSF Gene Miyoshi myopathy NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with DYSF Gene Miyoshi myopathy |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for DYSF Gene Miyoshi myopathy 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.