BSCL2 Gene SPG17 NGS Genetic Test: Symptoms, Diagnosis, and Cost
BSCL2 Gene SPG17 NGS Genetic Test is a diagnostic test used to detect mutations in the BSCL2 gene associated with a rare genetic disorder called spastic paraplegia type 17 (SPG17). This disorder affects the central nervous system and causes progressive muscle stiffness and weakness in the legs.
Symptoms of SPG17
The symptoms of SPG17 usually appear in early childhood or adolescence and gradually worsen over time. The main symptoms include:
- Difficulty walking or standing
- Stiffness or spasticity in the legs
- Weakness in the legs
- Numbness or tingling in the legs
- Unsteady gait
- Difficulty with balance and coordination
- Bladder and bowel dysfunction
- Muscle wasting
SPG17 can also affect other parts of the body, such as the arms, hands, and upper body. Some people with SPG17 may also experience cognitive impairment or psychiatric symptoms.
Diagnosis of SPG17
SPG17 is diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies. A neurologist will perform a physical exam to assess muscle strength, reflexes, and coordination. Imaging studies, such as magnetic resonance imaging (MRI), may be used to evaluate the brain and spinal cord.
Genetic testing is the most reliable way to diagnose SPG17. The BSCL2 Gene SPG17 NGS Genetic Test is a type of genetic test that uses next-generation sequencing (NGS) technology to detect mutations in the BSCL2 gene. This test is highly accurate and can detect mutations that may be missed by other genetic tests.
Cost of BSCL2 Gene SPG17 NGS Genetic Test
The cost of the BSCL2 Gene SPG17 NGS Genetic Test in India is around INR 20,000. This cost may vary depending on the laboratory and location.
Conclusion
The BSCL2 Gene SPG17 NGS Genetic Test is a valuable diagnostic tool for identifying mutations in the BSCL2 gene associated with SPG17. Early diagnosis and treatment can help to manage symptoms and improve quality of life for people with this rare genetic disorder.
If you or a loved one are experiencing symptoms of SPG17, it is important to consult with a neurologist and discuss the possibility of genetic testing.
Test Name | BSCL2 Gene SPG17 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 BSCL2 Gene SPG17 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with BSCL2 Gene SPG17 |
Disease | Neurological Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for BSCL2 Gene SPG17 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with BSCL2 Gene SPG17 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for BSCL2 Gene SPG17 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.