LDB3 Gene Myopathy: Symptoms, Diagnosis, and NGS Genetic Test
LDB3 gene myopathy, also known as myofibrillar myopathy or ZASP-related myopathy, is a rare genetic disorder that affects the muscles and causes weakness and wasting. This condition is caused by mutations in the LDB3 gene, which provides instructions for making a protein called ZASP. ZASP is a critical component of the muscle fiber structure and helps with its proper functioning.
Symptoms of LDB3 Gene Myopathy
The symptoms of LDB3 gene myopathy can vary greatly from person to person, even among those with the same genetic mutation. Some common symptoms include:
- Muscle weakness and wasting
- Difficulty walking and standing
- Difficulty breathing and swallowing
- Heart problems
- Vision and hearing problems
These symptoms can appear at any age, from early childhood to late adulthood. The severity of symptoms can also vary, with some people experiencing mild weakness and others being completely incapacitated.
Diagnosing LDB3 Gene Myopathy
Diagnosing LDB3 gene myopathy can be challenging, as the symptoms can be similar to those of other muscle disorders. A physical exam and medical history can help a doctor determine if further testing is necessary. Some common tests used to diagnose LDB3 gene myopathy include:
- Electromyography (EMG) to measure muscle activity
- Nerve conduction studies to measure the speed of nerve signals
- Muscle biopsy to examine muscle tissue under a microscope
- Genetic testing to identify mutations in the LDB3 gene
NGS Genetic Test for LDB3 Gene Myopathy
Next-generation sequencing (NGS) genetic testing is a powerful tool that can help diagnose LDB3 gene myopathy. This test can identify mutations in the LDB3 gene quickly and accurately, which can be helpful in confirming a diagnosis and guiding treatment decisions. The cost of an NGS Genetic Test for LDB3 gene myopathy in India is typically around INR 20,000.
Conclusion
LDB3 gene myopathy is a rare genetic disorder that can cause muscle weakness and wasting, among other symptoms. Diagnosis can be challenging, but genetic testing can help identify mutations in the LDB3 gene quickly and accurately. If you or a loved one is experiencing symptoms of LDB3 gene myopathy, it is important to speak with a healthcare provider to determine if further testing is necessary.
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 LDB3 Gene Myopathy, myofibrillar, ZASP related NGS Genetic Test
Test Name | LDB3 Gene Myopathy, myofibrillar, ZASP related 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 LDB3 Gene Myopathy, myofibrillar, ZASP related NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with LDB3 Gene Myopathy, myofibrillar, ZASP related |
Disease | Neurological Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for LDB3 Gene Myopathy, myofibrillar, ZASP related NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with LDB3 Gene Myopathy, myofibrillar, ZASP related |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for LDB3 Gene Myopathy, myofibrillar, ZASP related 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.