PABPN1 Gene Muscular Dystrophy: Symptoms, Diagnosis, and NGS Genetic Test Cost at DNA Labs India
Muscular dystrophy (MD) is a group of genetic disorders that cause progressive muscle weakness and wasting. One of the rare forms of MD is oculopharyngeal muscular dystrophy (OPMD) caused by mutations in the PABPN1 gene. OPMD affects the muscles in the eyes, throat, and sometimes other parts of the body.
Symptoms of OPMD
The symptoms of OPMD usually start in adulthood, between the ages of 40 and 60. Some of the common symptoms include:
- Difficulty swallowing (dysphagia)
- Drooping eyelids (ptosis)
- Double vision (diplopia)
- Weakness in the muscles of the face, neck, and shoulders
- Difficulty speaking (dysarthria)
These symptoms can vary in severity and progression from person to person. OPMD is a progressive disorder, meaning that the symptoms worsen over time.
Diagnosis of OPMD
OPMD is diagnosed through genetic testing. A blood or saliva sample is taken and analyzed to look for mutations in the PABPN1 gene. A positive result confirms the diagnosis of OPMD.
NGS Genetic Test Cost at DNA Labs India
DNA Labs India offers Next-Generation Sequencing (NGS) Genetic Testing for OPMD caused by mutations in the PABPN1 gene. The cost of the test is INR 20,000.
NGS is a powerful technology that can analyze multiple genes at once, providing a comprehensive picture of an individual’s genetic makeup. It is faster and more cost-effective than traditional genetic testing methods.
Conclusion
If you or a loved one are experiencing symptoms of OPMD, it is important to seek medical attention and consider genetic testing. DNA Labs India offers NGS Genetic Testing for OPMD caused by mutations in the PABPN1 gene at an affordable cost. Early diagnosis and management can improve the quality of life for individuals with OPMD.
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 PABPN1 Gene Muscular dystrophy, oculopharyngeal NGS Genetic Test
Test Name | PABPN1 Gene Muscular dystrophy, oculopharyngeal 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 PABPN1 Gene Muscular dystrophy, oculopharyngeal NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with PABPN1 Gene Muscular dystrophy, oculopharyngeal |
Disease | Neurological Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for PABPN1 Gene Muscular dystrophy, oculopharyngeal NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with PABPN1 Gene Muscular dystrophy, oculopharyngeal |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PABPN1 Gene Muscular dystrophy, oculopharyngeal 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.