Nx GEN SEQUENCING: AICARDI-GOUTIERES SYNDROME Test
Aicardi-Goutieres Syndrome (AGS) is a rare and progressive neurodevelopmental disorder that affects the brain and the immune system. It is caused by mutations in several genes, including the TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 genes. AGS is characterized by inflammation in the brain and the spinal cord, which leads to a wide range of symptoms such as seizures, developmental delay, and intellectual disability.
Nx GEN SEQUENCING is a genetic test that can identify mutations in the genes associated with AGS. It uses advanced sequencing technology to analyze the DNA of a patient and detect any changes or variations in the genes. This test is highly accurate and can provide a definitive diagnosis of AGS.
Symptoms of Aicardi-Goutieres Syndrome
The symptoms of AGS can vary depending on the severity and the age of onset. The most common symptoms include:
- Seizures
- Developmental delay
- Intellectual disability
- Microcephaly (abnormally small head size)
- Spasticity (stiffness and involuntary muscle contractions)
- Retinal degeneration (loss of vision)
- Hepatitis (inflammation of the liver)
These symptoms usually appear within the first year of life, but in some cases, they may not be noticeable until later in childhood.
Diagnosis of Aicardi-Goutieres Syndrome
The diagnosis of AGS is based on a combination of clinical symptoms, imaging studies, and genetic testing. Nx GEN SEQUENCING is a highly accurate and reliable test that can identify mutations in the genes associated with AGS. The test involves taking a small sample of blood or saliva from the patient and analyzing the DNA for any changes or variations. The results of the test can provide a definitive diagnosis of AGS and help doctors to develop an appropriate treatment plan.
Test Cost
The cost of the Nx GEN SEQUENCING test for AGS in India is INR 23400. This may vary depending on the location and the laboratory where the test is performed. Some insurance plans may cover the cost of genetic testing, so it is important to check with the insurance provider before undergoing the test.
Conclusion
Aicardi-Goutieres Syndrome is a rare and progressive neurodevelopmental disorder that affects the brain and the immune system. Nx GEN SEQUENCING is a genetic test that can identify mutations in the genes associated with AGS. The test is highly accurate and can provide a definitive diagnosis of AGS, which can help doctors to develop an appropriate treatment plan. If you or someone you know is experiencing symptoms of AGS, it is important to speak with a healthcare provider and consider undergoing genetic testing.
For more information on genetic testing for AGS and other genetic disorders, contact DNA Labs India.
Test Name | Nx Gen Sequencing: Aicardi-Goutieres Syndrome Test |
---|---|
Sample type | Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Test type | Neurologist, Pediatrician |
Pre-test Information | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Disease | Genetic Disorders-Encephalopathy |
Method | NGS, Sanger sequencing |
Purpose | ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1 |
Preparation | Room Temperature: 6 hrs, Refrigerator:72 hrs, Frozen: NA |
Fasting | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Get Reports | Sample Daily by 9 am; Report 40 Working days |
Test Price | INR ₹ 23400 |
Note: We offer free home sample collection for online bookings for Nx Gen Sequencing: Aicardi-Goutieres Syndrome Test and the test costs a special discounted price of 23400 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.