SCN4A Gene Paramyotonia Congenita of von Eulenburg NGS Genetic Test
Paramyotonia congenita of von Eulenburg is a rare inherited muscle disorder that causes muscle stiffness and weakness. It is caused by a mutation in the SCN4A gene, which provides instructions for making a sodium channel that helps control the flow of charged particles in muscle cells. This disorder is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the disorder.
Symptoms of Paramyotonia Congenita of von Eulenburg
The symptoms of Paramyotonia congenita of von Eulenburg usually appear in childhood or adolescence and may include:
- Muscle stiffness and weakness, especially in the face, neck, and hands
- Difficulty with fine motor skills, such as writing or buttoning clothes
- Worsening of symptoms with exposure to cold temperatures or prolonged exercise
- Relief of symptoms with rest or warmth
Diagnosis of Paramyotonia Congenita of von Eulenburg
Diagnosis of Paramyotonia congenita of von Eulenburg is usually based on the symptoms and a family history of the disorder. A genetic test can confirm the diagnosis by identifying the mutation in the SCN4A gene. Genetic testing may also be recommended for family members of someone with the disorder to determine if they carry the mutation and are at risk of developing the disorder.
NGS Genetic Test for SCN4A Gene Paramyotonia Congenita of von Eulenburg
The NGS Genetic Test for SCN4A Gene Paramyotonia Congenita of von Eulenburg is a genetic test that uses next-generation sequencing (NGS) technology to analyze the SCN4A gene for mutations associated with the disorder. This test can provide a definitive diagnosis of Paramyotonia congenita of von Eulenburg and can also be used for carrier testing in family members of someone with the disorder.
Cost of NGS Genetic Test for SCN4A Gene Paramyotonia Congenita of von Eulenburg
The cost of the NGS Genetic Test for SCN4A Gene Paramyotonia Congenita of von Eulenburg varies depending on the testing facility and location. In India, the cost of this test is typically around INR 20,000.
Conclusion
Paramyotonia congenita of von Eulenburg is a rare inherited muscle disorder that can cause muscle stiffness and weakness. A genetic test can confirm the diagnosis by identifying the mutation in the SCN4A gene. The NGS Genetic Test for SCN4A Gene Paramyotonia Congenita of von Eulenburg is a genetic test that uses next-generation sequencing (NGS) technology to analyze the SCN4A gene for mutations associated with the disorder. This test can provide a definitive diagnosis of Paramyotonia congenita of von Eulenburg and can also be used for carrier testing in family members of someone with the disorder. The cost of this test in India is typically around INR 20,000.
If you or someone you know is experiencing symptoms of Paramyotonia congenita of von Eulenburg, it is important to seek medical attention and genetic testing to confirm the diagnosis. DNA Labs India offers NGS Genetic Testing services for various genetic disorders, including Paramyotonia congenita of von Eulenburg. Contact us today to learn more about our genetic testing services and to schedule an appointment.
| Test Name | SCN4A Gene Paramyotonia congenita of von Eulenburg 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 SCN4A Gene Paramyotonia congenita of von Eulenburg NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with SCN4A Gene Paramyotonia congenita of von Eulenburg |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for SCN4A Gene Paramyotonia congenita of von Eulenburg NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with SCN4A Gene Paramyotonia congenita of von Eulenburg |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for SCN4A Gene Paramyotonia congenita of von Eulenburg 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.
