EGR2 Gene Dejerine-Sottas Disease NGS Genetic Test – Cost, Symptoms & Diagnosis
Dejerine-Sottas disease is a rare genetic disorder that affects the peripheral nerves. It is a type of Charcot-Marie-Tooth disease and is caused by mutations in the EGR2 gene. The disease is named after two French physicians, Joseph Jules Dejerine and Pierre Marie Sottas, who first described it in 1893.
Symptoms of Dejerine-Sottas Disease
The symptoms of Dejerine-Sottas disease typically begin in early childhood and worsen over time. The most common symptoms include:
- Muscle weakness and wasting
- Numbness and tingling in the limbs
- Poor balance and coordination
- Hammertoes and high arches
- Scoliosis
The severity of the symptoms can vary greatly from person to person, even within families with the same mutation. Some people may be able to walk without assistance while others may require a wheelchair.
Diagnosis of Dejerine-Sottas Disease
Dejerine-Sottas disease is typically diagnosed through a combination of clinical examination, nerve conduction studies, and genetic testing. The nerve conduction studies can help to determine the extent of nerve damage while genetic testing can confirm the presence of the EGR2 gene mutation.
NGS Genetic Test
The NGS (Next Generation Sequencing) Genetic Test is a comprehensive genetic test that can detect mutations in the EGR2 gene. The test uses advanced sequencing technology to analyze the entire coding region of the gene, which increases the accuracy of the test.
The NGS Genetic Test can also detect mutations in other genes that may be associated with similar symptoms, which can help to provide a more accurate diagnosis. The cost of the test is INR 20,000.
Conclusion
Dejerine-Sottas disease is a rare genetic disorder that can cause significant disability. Early diagnosis and genetic testing can help to provide a more accurate diagnosis and enable individuals to receive appropriate treatment and support. The NGS Genetic Test is a comprehensive genetic test that can detect mutations in the EGR2 gene and other associated genes. The cost of the test is INR 20,000.
If you suspect that you or a family member may have Dejerine-Sottas disease, it is important to speak with a genetic counselor or medical professional who can provide guidance and support.
For more information on genetic testing and counseling services, please contact DNA Labs India.
Test Name | EGR2 Gene Dejerine-Sottas disease 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 EGR2 Gene Dejerine-Sottas disease NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with EGR2 Gene Dejerine-Sottas disease |
Disease | Neurological Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for EGR2 Gene Dejerine-Sottas disease NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with EGR2 Gene Dejerine-Sottas disease |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for EGR2 Gene Dejerine-Sottas disease 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.