MPZ Gene CMT2J NGS Genetic Test: Symptoms, Diagnosis, and Cost
Charcot-Marie-Tooth (CMT) disease is a group of inherited neurological disorders that affect the peripheral nerves. The disease is named after the three doctors who first described it in 1886: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth. CMT is caused by mutations in genes that affect the normal function of the peripheral nerves. One of the genes associated with CMT is the MPZ gene, which codes for the myelin protein zero (MPZ). MPZ is essential for the normal function of the myelin sheath that covers and protects the peripheral nerves.
Symptoms of CMT2J
CMT2J is a subtype of CMT caused by mutations in the MPZ gene. The symptoms of CMT2J usually appear in late childhood or early adolescence, although some cases may present in adulthood. The main symptoms of CMT2J include:
- Weakness and atrophy of the muscles in the feet and lower legs
- Difficulty walking and running
- Numbness and tingling in the feet and lower legs
- Loss of sensation in the feet and lower legs
- Foot deformities, such as high arches and hammertoes
The symptoms of CMT2J are progressive, meaning that they worsen over time. The severity and progression of the disease can vary from person to person, even among members of the same family with the same genetic mutation.
Diagnosis of CMT2J
The diagnosis of CMT2J is based on a combination of clinical features, family history, and genetic testing. A neurologist or geneticist will perform a physical exam and ask about symptoms and family history. They may also order nerve conduction studies and electromyography (EMG) to assess nerve function and muscle activity. Genetic testing, such as next-generation sequencing (NGS) of the MPZ gene, can confirm the diagnosis of CMT2J.
Cost of MPZ Gene CMT2J NGS Genetic Test
The cost of MPZ Gene CMT2J NGS Genetic Test in India is around INR 20,000. The cost may vary depending on the laboratory and location. The MPZ Gene CMT2J NGS Genetic Test is a highly accurate and reliable test that can confirm the diagnosis of CMT2J. The test is non-invasive and involves a simple blood or saliva sample. The results of the test can provide important information for the management and treatment of CMT2J.
Conclusion
CMT2J is a rare subtype of CMT caused by mutations in the MPZ gene. The symptoms of CMT2J are progressive and can vary from person to person. The diagnosis of CMT2J is based on a combination of clinical features, family history, and genetic testing. The MPZ Gene CMT2J NGS Genetic Test is a highly accurate and reliable test that can confirm the diagnosis of CMT2J. The cost of the test in India is around INR 20,000. Early diagnosis and management of CMT2J can help improve the quality of life for individuals with the disease.
For more information on MPZ Gene CMT2J NGS Genetic Test or to schedule an appointment, contact DNA Labs India today.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for MPZ Gene CMT2J NGS Genetic Test
Test Name | MPZ Gene CMT2J 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 MPZ Gene CMT2J NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with MPZ Gene CMT2J |
Disease | Neurological Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for MPZ Gene CMT2J NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with MPZ Gene CMT2J |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for MPZ Gene CMT2J 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.