CHRND Gene Myasthenic Syndrome – DNA Labs India
CHRND Gene Myasthenic Syndrome is a rare genetic disorder that affects the muscles used for movement and breathing. It is caused by mutations in the CHRND gene, which provides instructions for making a protein that is essential for the communication between nerve cells and muscle cells. This communication is necessary for the muscles to contract and move.
There are several types of CHRND Gene Myasthenic Syndrome, including congenital and fast-channel types. Type 3B is a fast-channel type that is caused by specific mutations in the CHRND gene.
Symptoms
The symptoms of CHRND Gene Myasthenic Syndrome can vary depending on the type and severity of the condition. Some common symptoms include:
- Muscle weakness, especially in the arms, legs, and eyes
- Trouble breathing
- Fatigue
- Difficulty swallowing
- Delayed motor development
Diagnosis
Diagnosis of CHRND Gene Myasthenic Syndrome typically involves a physical exam, medical history review, and genetic testing. Genetic testing can confirm the presence of mutations in the CHRND gene and help to determine the specific type of the condition.
NGS Genetic Test Cost in India
DNA Labs India offers NGS Genetic Test for CHRND Gene Myasthenic Syndrome at a cost of INR 20,000. This test is highly accurate and provides reliable results that can help with diagnosis and treatment planning.
If you or a loved one is experiencing symptoms of CHRND Gene Myasthenic Syndrome, it is important to seek medical attention and consider genetic testing. DNA Labs India offers accurate and affordable genetic testing services that can help to provide answers and improve overall health outcomes.
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 CHRND gene have been associated with a specific subtype of CMS known as congenital myasthenic syndrome type 3B, fast-channel type.
The CHRND gene encodes a subunit of the acetylcholine receptor, which is essential for the transmission of signals from nerves to muscles. Mutations in this gene can lead to altered functioning of the acetylcholine receptor, disrupting neuromuscular transmission and causing muscle weakness.
Features of congenital myasthenic syndrome type 3B, fast-channel type, 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 CHRND gene associated with congenital myasthenic syndrome type 3B, fast-channel type. 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 type 3B, fast-channel type, 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 | CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel 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 3B, fast-channel NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel |
| 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 3B, fast-channel NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel |
| 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 3B, fast-channel 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.
