CHAT Gene Myasthenic Syndrome: Symptoms, Diagnosis, and NGS Genetic Test Cost
Myasthenic syndrome, congenital is a rare genetic disorder that affects the neuromuscular junction, which is responsible for transmitting signals from the nerves to the muscles. This disorder is caused by mutations in the CHAT gene, which encodes for an enzyme called choline acetyltransferase that is essential for the synthesis of acetylcholine, a neurotransmitter that is required for muscle contraction.
Symptoms of CHAT Gene Myasthenic Syndrome
The symptoms of CHAT gene myasthenic syndrome can vary depending on the severity of the condition. Some common symptoms include:
- Muscle weakness
- Fatigue
- Difficulty breathing
- Difficulty swallowing
- Facial weakness
- Scoliosis
- Joint contractures
These symptoms usually appear in infancy or early childhood and can worsen over time.
Diagnosis of CHAT Gene Myasthenic Syndrome
Diagnosis of CHAT gene myasthenic syndrome involves a combination of clinical evaluation, electrophysiological testing, and genetic testing. The clinical evaluation includes a physical examination and a review of the patient’s medical history and symptoms. Electrophysiological testing involves measuring the electrical activity of the muscles and nerves.
Genetic testing is the most accurate way to diagnose CHAT gene myasthenic syndrome. Next-generation sequencing (NGS) genetic testing can detect mutations in the CHAT gene and other genes associated with myasthenic syndromes. NGS genetic testing is a comprehensive and efficient way to diagnose genetic disorders and can provide results in a timely manner.
NGS Genetic Test Cost for CHAT Gene Myasthenic Syndrome
The cost of NGS genetic testing for CHAT gene myasthenic syndrome can vary depending on the laboratory and the specific test ordered. At DNA Labs India, the cost of NGS genetic testing for CHAT gene myasthenic syndrome is INR 20,000.
NGS genetic testing is a valuable tool for the diagnosis of genetic disorders such as CHAT gene myasthenic syndrome. It can provide accurate and timely results that can help guide treatment and management decisions.
Conclusion
CHAT gene myasthenic syndrome is a rare genetic disorder that affects the neuromuscular junction. Symptoms can vary in severity and can worsen over time. Diagnosis involves a combination of clinical evaluation, electrophysiological testing, and genetic testing. NGS genetic testing is the most accurate way to diagnose CHAT gene myasthenic syndrome and can provide results in a timely manner. The cost of NGS genetic testing for CHAT gene myasthenic syndrome at DNA Labs India is INR 20,000.
Early diagnosis and management of CHAT gene myasthenic syndrome can improve outcomes and quality of life for patients. If you or a loved one is experiencing symptoms of myasthenic syndrome, it is important to seek medical attention and consider genetic testing.
For more information on CHAT gene myasthenic syndrome and NGS genetic testing, contact DNA Labs India today.
| Test Name | CHAT Gene Myasthenic syndrome, congenital 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 CHAT Gene Myasthenic syndrome, congenital NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with CHAT Gene Myasthenic syndrome, congenital |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for CHAT Gene Myasthenic syndrome, congenital NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with CHAT Gene Myasthenic syndrome, congenital |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for CHAT Gene Myasthenic syndrome, congenital 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.
