Understanding CHRND Gene Myasthenic Syndrome, Congenital, Type 3C, Associated with Acetylcholine Receptor Deficiency
Myasthenic Syndrome, Congenital, Type 3C, Associated with Acetylcholine Receptor Deficiency is a rare genetic disorder that affects the muscles of the body. It is caused by a mutation in the CHRND gene, which is responsible for producing a protein that helps nerve cells communicate with muscles.
This genetic disorder affects the neuromuscular junction, which is the point where nerve cells meet muscle cells. It leads to a decrease in the number of acetylcholine receptors on the muscle cells, which makes it difficult for nerve cells to communicate with the muscles.
Symptoms of CHRND Gene Myasthenic Syndrome
The symptoms of CHRND Gene Myasthenic Syndrome can vary from person to person. Some of the common symptoms include:
- Weakness in the muscles that control movement
- Difficulty in breathing
- Difficulty in swallowing
- Fatigue
- Droopy eyelids
- Double vision
Diagnosis of CHRND Gene Myasthenic Syndrome
The diagnosis of CHRND Gene Myasthenic Syndrome involves a combination of clinical examination, genetic testing, and imaging studies. A clinical examination can help identify the symptoms and signs of the disorder. Genetic testing can help identify the mutation in the CHRND gene. Imaging studies such as MRI or CT scans can help identify any abnormalities in the muscles or nerves.
NGS Genetic Test for CHRND Gene Myasthenic Syndrome
Next-Generation Sequencing (NGS) Genetic Test is a powerful tool used for the diagnosis of genetic disorders such as CHRND Gene Myasthenic Syndrome. This test uses advanced sequencing technology to analyze the DNA sequence of the patient and identify any mutations or abnormalities in the CHRND gene.
Cost of NGS Genetic Test for CHRND Gene Myasthenic Syndrome
The cost of NGS Genetic Test for CHRND Gene Myasthenic Syndrome in India is around INR 20,000. This cost may vary depending on the location, laboratory, and other factors.
Conclusion
CHRND Gene Myasthenic Syndrome is a rare genetic disorder that affects the neuromuscular junction and leads to muscle weakness, difficulty in breathing, swallowing, and other symptoms. The diagnosis of this disorder involves a combination of clinical examination, genetic testing, and imaging studies. NGS Genetic Test is a powerful tool used for the diagnosis of this disorder. The cost of this test in India is around INR 20,000.
If you or your loved ones are experiencing any symptoms of CHRND Gene Myasthenic Syndrome, it is important to consult a healthcare provider for proper diagnosis and treatment.
DNA Labs India is a leading provider of genetic testing services in India. We offer a wide range of genetic tests including NGS Genetic Test for CHRND Gene Myasthenic Syndrome. Our team of experienced genetic counselors and scientists are dedicated to providing accurate and reliable test results. Contact us today to learn more about our services.
| Test Name | CHRND Gene Myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency 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 CHRND Gene Myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with CHRND Gene Myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for CHRND Gene Myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with CHRND Gene Myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for CHRND Gene Myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency 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.
