NEB Gene Nemaline Myopathy Type 2: Symptoms, Diagnosis, and Cost of Autosomal Recessive NGS Genetic Test
Nemaline myopathy (NM) is a rare genetic disorder that affects the skeletal muscles. There are several types of NM, and one of them is NEB Gene Nemaline Myopathy Type 2. It is an autosomal recessive disorder that is caused by a mutation in the NEB gene. This gene provides instructions for making a protein called nebulin, which is essential for muscle function.
Symptoms
The symptoms of NEB Gene Nemaline Myopathy Type 2 can vary in severity. Some common symptoms include:
- Muscle weakness and fatigue
- Delayed motor development
- Difficulty breathing
- Scoliosis
- Joint contractures
- Abnormal curvature of the spine
- Difficulty swallowing
These symptoms can appear at different ages, and the severity of the symptoms can vary from person to person. In some cases, the symptoms may be mild and not noticeable until later in life.
Diagnosis
NEB Gene Nemaline Myopathy Type 2 can be diagnosed through genetic testing. The most common test used is Next-Generation Sequencing (NGS) Genetic Test. This test looks for mutations in the NEB gene that are associated with NM. It is a highly accurate test that can detect even small mutations in the gene.
In addition to genetic testing, a muscle biopsy may also be performed to confirm the diagnosis. This involves taking a small sample of muscle tissue and examining it under a microscope to look for the presence of nemaline rods, which are characteristic of NM.
Cost of Autosomal Recessive NGS Genetic Test
The cost of Autosomal Recessive NGS Genetic Test for NEB Gene Nemaline Myopathy Type 2 in India is around INR 20,000. However, the cost may vary depending on the laboratory and location.
Conclusion
NEB Gene Nemaline Myopathy Type 2 is a rare genetic disorder that can cause muscle weakness and other symptoms. It can be diagnosed through genetic testing and muscle biopsy. The cost of Autosomal Recessive NGS Genetic Test for NEB Gene Nemaline Myopathy Type 2 in India is around INR 20,000. If you or someone you know is experiencing symptoms of NM, it is important to consult a doctor and get tested to determine the underlying cause.
At DNA Labs India, we offer a wide range of genetic tests, including Autosomal Recessive NGS Genetic Test for NEB Gene Nemaline Myopathy Type 2. Our tests are highly accurate and affordable, and we provide expert counseling to help you understand the results and make informed decisions about your health. Contact us today to learn more.
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 NEB Gene Nemaline myopathy type 2, autosomal recessive NGS Genetic Test
| Test Name | NEB Gene Nemaline myopathy type 2, autosomal recessive 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 NEB Gene Nemaline myopathy type 2, autosomal recessive NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with NEB Gene Nemaline myopathy type 2, autosomal recessive |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for NEB Gene Nemaline myopathy type 2, autosomal recessive NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with NEB Gene Nemaline myopathy type 2, autosomal recessive |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for NEB Gene Nemaline myopathy type 2, autosomal recessive 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.
