POMT1 Gene Limb-girdle Muscular Dystrophy, Autosomal Recessive Type 2N NGS Genetic Test
Muscular dystrophy is a group of inherited genetic disorders that cause muscle weakness and degeneration. Limb-girdle muscular dystrophy (LGMD) is a type of muscular dystrophy that primarily affects the muscles around the hips and shoulders. Autosomal recessive LGMD type 2N is caused by mutations in the POMT1 gene.
Symptoms of LGMD Autosomal Recessive Type 2N
The symptoms of LGMD autosomal recessive type 2N usually appear during childhood or adolescence. The initial symptoms may include difficulty in walking, running, and climbing stairs. As the disease progresses, muscle weakness and wasting spread to other parts of the body, including the arms, legs, and trunk. Patients may also experience joint stiffness, contractures, and respiratory problems.
Diagnosis of LGMD Autosomal Recessive Type 2N
The diagnosis of LGMD autosomal recessive type 2N involves a combination of clinical examination, genetic testing, and muscle biopsy. The physician may perform a physical examination to assess muscle strength, tone, and reflexes. Genetic testing can identify mutations in the POMT1 gene that cause the disease. A muscle biopsy involves removing a small sample of muscle tissue and examining it under a microscope to detect any abnormalities.
NGS Genetic Test for LGMD Autosomal Recessive Type 2N
Next-generation sequencing (NGS) Genetic Testing is a powerful tool for identifying mutations in the POMT1 gene that cause LGMD autosomal recessive type 2N. This test involves sequencing the entire DNA sequence of the POMT1 gene to identify any mutations that may be present. NGS Genetic Testing is a highly accurate and sensitive method for detecting genetic mutations, and it can provide a definitive diagnosis for patients with LGMD autosomal recessive type 2N.
Cost of NGS Genetic Test for LGMD Autosomal Recessive Type 2N in India
The cost of NGS Genetic Testing for LGMD autosomal recessive type 2N in India is approximately INR 20,000. This cost may vary depending on the specific laboratory that performs the test and any additional services that may be required. Patients should consult with their physician or genetic counselor to determine the most appropriate testing options and costs for their individual needs.
Conclusion
LGMD autosomal recessive type 2N is a rare genetic disorder that can cause significant muscle weakness and degeneration. NGS Genetic Testing is a powerful tool for identifying mutations in the POMT1 gene that cause the disease, and it can provide a definitive diagnosis for patients. The cost of NGS Genetic Testing for LGMD autosomal recessive type 2N in India is approximately INR 20,000. Patients should consult with their physician or genetic counselor to determine the most appropriate testing options and costs for their individual needs.
DNA Labs India provides NGS Genetic Testing for LGMD autosomal recessive type 2N and other genetic disorders. Contact us today to learn more about our testing services and how we can help you achieve a definitive diagnosis.
| Test Name | POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2N 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 POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2N NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2N |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2N NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2N |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2N 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.
