ASPA Gene Canavan Disease NGS Genetic Test Cost INR 20000: Symptoms and Diagnosis
Canavan Disease is a rare genetic disorder that affects the brain and nerve cells. It is caused by a mutation in the ASPA gene, which leads to a deficiency of the enzyme aspartoacylase. The buildup of a compound called N-acetylaspartic acid (NAA) in the brain causes the destruction of the myelin sheath that covers nerve fibers. This results in the progressive degeneration of the brain and leads to symptoms such as developmental delays, hypotonia, and seizures.
Canavan Disease is more common in individuals of Ashkenazi Jewish descent, but it can occur in any ethnic group. The disorder is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene for their child to develop the disease.
Symptoms of Canavan Disease
The symptoms of Canavan Disease usually appear within the first few months of life and may include:
- Developmental delays, including delays in motor skills and speech
- Hypotonia, or low muscle tone
- Seizures
- Macrocephaly, or an abnormally large head
- Difficulty feeding
- Abnormal eye movements
- Sleep disturbances
Diagnosis of Canavan Disease
Canavan Disease can be diagnosed through genetic testing. A sample of DNA is taken from the individual being tested, and the ASPA gene is analyzed for mutations. New Generation Sequencing (NGS) technology is used to identify variations in the DNA sequence of the gene.
The cost of the NGS Genetic Test for Canavan Disease in India is INR 20000. The test is available at DNA Labs India, a leading provider of genetic testing services in the country.
If a child is diagnosed with Canavan Disease, genetic counseling is recommended for the parents and other family members. Genetic counseling can help individuals understand the risks of having children with the disorder and provide information on available treatments and support services.
Conclusion
Canavan Disease is a rare genetic disorder that affects the brain and nerve cells. It is caused by a mutation in the ASPA gene and can be diagnosed through genetic testing using NGS technology. The cost of the test in India is INR 20000. Early diagnosis and intervention can help improve the quality of life for individuals with the disorder and their families.
At DNA Labs India, we offer a wide range of genetic testing services, including NGS Genetic Test for Canavan Disease. Contact us today to learn more about our services and how we can help you.
Test Name | ASPA Gene Canavan 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 ASPA Gene Canavan disease NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with ASPA Gene Canavan disease |
Disease | Neurological Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for ASPA Gene Canavan disease NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with ASPA Gene Canavan disease |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ASPA Gene Canavan 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.