CHRNE Gene Myasthenic Syndrome, Congenital NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
Myasthenic syndrome is a group of diseases that cause muscle weakness and fatigue. One type of myasthenic syndrome is caused by mutations in the CHRNE gene, which is responsible for encoding the epsilon subunit of the acetylcholine receptor. This type of myasthenic syndrome is congenital, meaning it is present at birth.
The symptoms of CHRNE gene myasthenic syndrome can vary in severity. Common symptoms include:
- Muscle weakness, especially in the face, neck, and limbs
- Difficulty swallowing and speaking
- Shortness of breath
- Episodes of respiratory failure
- Difficulty controlling eye movements
Diagnosing CHRNE gene myasthenic syndrome can be challenging because its symptoms are similar to those of other neuromuscular disorders. However, DNA Labs India offers a congenital NGS Genetic Test that can help diagnose this condition with high accuracy. This test analyzes the entire coding region of the CHRNE gene, allowing for the detection of mutations that cause myasthenic syndrome.
The cost of DNA Labs India’s congenital NGS Genetic Test for CHRNE gene myasthenic syndrome is INR:20000. This is an affordable price for a high-quality genetic test that can provide accurate results.
If you or a loved one is experiencing symptoms of myasthenic syndrome, it’s important to seek medical attention. A diagnosis of CHRNE gene myasthenic syndrome can provide answers and help guide treatment decisions. Contact DNA Labs India today to learn more about our congenital NGS Genetic Test for CHRNE gene myasthenic syndrome.
Congenital myasthenic syndromes (CMS) are a group of rare genetic disorders that affect the neuromuscular junction, the point where nerve cells connect with muscles. These syndromes result in muscle weakness and fatigue, particularly during repetitive movements. Mutations in the CHRNE gene have been associated with a specific subtype of CMS known as congenital myasthenic syndrome associated with epsilon subunit of acetylcholine receptor deficiency.
The CHRNE gene encodes the epsilon subunit of the acetylcholine receptor, which is essential for the transmission of signals from nerves to muscles. Mutations in this gene can lead to a deficiency or dysfunction of the acetylcholine receptor, disrupting neuromuscular transmission and causing muscle weakness.
Features of congenital myasthenic syndrome associated with CHRNE gene mutations can include:
- Muscle weakness and fatigue
- Difficulty with breathing and swallowing
- Variable severity of symptoms
- Potential improvement in muscle function with anticholinesterase medications
NGS (Next-Generation Sequencing) Genetic Testing can help identify mutations in the CHRNE gene associated with congenital myasthenic syndrome. Genetic testing is an important tool for confirming the diagnosis and understanding the underlying genetic cause of the syndrome.
If you suspect that you or someone you know might have congenital myasthenic syndrome associated with CHRNE gene mutations, it’s important to consult with a neurologist, medical geneticist, or healthcare professional with expertise in neuromuscular disorders. They can provide appropriate genetic testing, medical management, and supportive care recommendations tailored to the individual’s needs.
| Test Name | CHRNE 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 CHRNE Gene Myasthenic syndrome, congenital NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with CHRNE 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 CHRNE Gene Myasthenic syndrome, congenital NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with CHRNE 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 CHRNE 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.
