POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 NGS Genetic Test cost INR:20000 symptoms diagnosis
Muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness and loss of muscle mass. One such type of muscular dystrophy is POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8. It is caused by mutations in the POMGNT2 gene and is inherited in an autosomal recessive pattern.
Symptoms
The symptoms of POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 can vary widely among affected individuals. However, some common symptoms are:
- Muscle weakness and wasting
- Delayed motor development
- Brain and eye abnormalities
- Intellectual disability
- Seizures
- Respiratory problems
Diagnosis
POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 can be diagnosed through a genetic test. Next-generation sequencing (NGS) technology can identify mutations in the POMGNT2 gene.
The diagnosis is usually confirmed through a combination of clinical features, muscle biopsy, and genetic testing.
NGS Genetic Test cost
The cost of NGS Genetic Test for POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 in India is approximately INR 20,000.
Conclusion
POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 is a rare genetic disorder that affects muscle, brain, and eye development. Early diagnosis through genetic testing can help in better management and treatment of the disease.
DNA Labs India offers NGS Genetic Test for POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 at an affordable cost. Contact us today to schedule an appointment.
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 POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 NGS Genetic Test
| Test Name | POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 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 POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 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.
