BSCL2 Gene Neuropathy: Symptoms, Diagnosis and NGS Genetic Test Cost
BSCL2 gene neuropathy, also known as distal hereditary motor neuropathy type 5A (dHMN5A), is a rare inherited disorder that affects the motor neurons in the peripheral nervous system.
The condition is caused by mutations in the BSCL2 gene, which provides instructions for making a protein called seipin that is involved in the formation of fat cells. These mutations disrupt the normal function of seipin, leading to the degeneration of motor neurons and the muscles they control.
Symptoms of BSCL2 Gene Neuropathy
The symptoms of BSCL2 gene neuropathy usually begin in adolescence or early adulthood and progress slowly over time. They typically include:
- Weakness and wasting of the muscles in the hands and feet
- Difficulty walking and maintaining balance
- Loss of muscle tone and reflexes
- Difficulty with fine motor skills, such as writing or buttoning clothes
- Numbness, tingling or pain in the affected limbs
Diagnosis of BSCL2 Gene Neuropathy
BSCL2 gene neuropathy is diagnosed through a combination of clinical examination, electromyography (EMG) and genetic testing. EMG is used to assess the electrical activity of the muscles and determine the extent of nerve damage. Genetic testing can confirm the presence of BSCL2 gene mutations.
NGS Genetic Test Cost for BSCL2 Gene Neuropathy at DNA Labs India
The cost of NGS Genetic Test for BSCL2 Gene Neuropathy at DNA Labs India is INR 20,000. This test uses next-generation sequencing technology to analyze the entire coding region of the BSCL2 gene and identify mutations that may be causing the condition.
At DNA Labs India, we provide accurate and reliable genetic testing services for a wide range of inherited disorders, including BSCL2 gene neuropathy. Our state-of-the-art laboratory is equipped with the latest technology and staffed by experienced professionals who are committed to providing the highest level of service and support to our clients.
If you or a loved one is experiencing symptoms of BSCL2 gene neuropathy, contact DNA Labs India today to learn more about our genetic testing services and how we can help.
Test Name | BSCL2 Gene Neuropathy, distal hereditary motor, type 5A NGS Genetic Test |
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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 BSCL2 Gene Neuropathy, distal hereditary motor, type 5A NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with BSCL2 Gene Neuropathy, distal hereditary motor, type 5A |
Disease | Neurological Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for BSCL2 Gene Neuropathy, distal hereditary motor, type 5A NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with BSCL2 Gene Neuropathy, distal hereditary motor, type 5A |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for BSCL2 Gene Neuropathy, distal hereditary motor, type 5A 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.