POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 NGS Genetic Test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 is a rare genetic disorder that affects muscle function, brain development, and eye abnormalities. It is caused by mutations in the POMT2 gene, which provides instructions for making an enzyme that is important for the formation of a protein called alpha-dystroglycan. Alpha-dystroglycan helps to anchor muscle cells to the surrounding tissue and is also important for the development and maintenance of the brain and eyes.
Symptoms of POMT2 gene muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 can vary widely, but often include muscle weakness, developmental delays, intellectual disability, and vision problems. Diagnosis can be made through genetic testing, which can identify mutations in the POMT2 gene.
NGS Genetic Testing is a powerful tool for identifying genetic mutations that can cause rare disorders like POMT2 gene muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2. It uses next-generation sequencing technology to analyze a patient’s DNA and identify mutations that may be responsible for their symptoms.
DNA Labs India offers NGS Genetic Testing for POMT2 gene muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 at a cost of INR 20,000. This test can help to provide a definitive diagnosis for patients with this rare disorder, allowing for more targeted treatment and management of symptoms.
If you or a loved one are experiencing symptoms of POMT2 gene muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2, talk to your doctor about genetic testing options. Early diagnosis and treatment can help to improve outcomes and quality of life for patients with this rare disorder.
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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 POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 NGS Genetic Test
| Test Name | POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 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 POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 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.
