GJB1 Gene CMTX1 NGS Genetic Test: Symptoms, Diagnosis, and Cost
Charcot-Marie-Tooth disease (CMT) is a group of inherited neurological disorders that affect the peripheral nerves. CMTX1 is a subtype of CMT that is caused by mutations in the GJB1 gene. This gene provides instructions for making a protein called connexin 32, which is essential for the normal functioning of peripheral nerves.
NGS (Next-Generation Sequencing) is a high-throughput DNA sequencing technology that can analyze multiple genes simultaneously. The GJB1 gene CMTX1 NGS Genetic Test is a diagnostic tool that uses NGS to identify mutations in the GJB1 gene.
Symptoms of CMTX1
CMTX1 is characterized by a progressive loss of muscle tissue and weakness in the hands, feet, and lower legs. Other symptoms may include:
- Numbness and tingling in the limbs
- Difficulty walking
- Foot deformities
- Loss of balance
- Difficulty with fine motor skills, such as writing or buttoning clothes
The severity of CMTX1 symptoms can vary widely, even among members of the same family who share the same genetic mutation.
Diagnosis of CMTX1
If CMTX1 is suspected, a GJB1 gene CMTX1 NGS Genetic Test can be performed to confirm the diagnosis. This test can detect mutations in the GJB1 gene with high accuracy.
The test is typically done on a blood sample, which is sent to a laboratory for analysis. Results are usually available within a few weeks.
Cost of GJB1 Gene CMTX1 NGS Genetic Test in India
The cost of the GJB1 gene CMTX1 NGS Genetic Test in India can vary depending on the laboratory performing the test. On average, the cost of the test is around INR 20,000.
It is important to note that this cost may not include additional fees, such as consultation fees or sample collection fees. It is recommended to confirm the total cost of the test with the laboratory before proceeding with the test.
Conclusion
The GJB1 gene CMTX1 NGS Genetic Test is a valuable diagnostic tool for individuals suspected of having CMTX1. The test can accurately detect mutations in the GJB1 gene, allowing for early diagnosis and appropriate treatment.
The cost of the test may vary, but it is a worthwhile investment in the long-term management of CMTX1. If you or a loved one are experiencing symptoms of CMTX1, it is recommended to speak with a healthcare professional about the possibility of undergoing the GJB1 gene CMTX1 NGS Genetic Test.
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 GJB1 Gene CMTX1 NGS Genetic Test
Test Name | GJB1 Gene CMTX1 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 GJB1 Gene CMTX1 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with GJB1 Gene CMTX1 |
Disease | Neurological Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for GJB1 Gene CMTX1 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with GJB1 Gene CMTX1 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for GJB1 Gene CMTX1 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.