Understanding RNASEH2B Gene and Aicardi-Goutieres Syndrome Type 2
Aicardi-Goutieres Syndrome (AGS) is a rare genetic disorder that affects the brain, skin, and immune system. It is a type of autoimmune disorder that can cause severe neurological damage. AGS is a rare disease and it is estimated to affect approximately 1 in 100,000 individuals worldwide. AGS is caused by mutations in several genes, including the RNASEH2B gene. In this blog post, we will take a closer look at the RNASEH2B gene and its role in AGS type 2, the symptoms of AGS type 2, the diagnosis process, and the cost of NGS Genetic Testing for AGS type 2 in India.
Understanding the RNASEH2B Gene and its Role in AGS Type 2
The RNASEH2B gene is responsible for producing an enzyme that is involved in DNA replication and repair. When this gene is mutated, it can cause problems with DNA repair, leading to the accumulation of damaged DNA in cells. This can trigger an immune response that can cause inflammation, which can damage brain tissue.
AGS type 2 is caused by mutations in the RNASEH2B gene. Individuals with AGS type 2 have a defective RNASEH2B enzyme, which leads to the accumulation of damaged DNA and inflammation in the brain. This can cause a range of symptoms, including seizures, developmental delays, and vision problems.
Symptoms of AGS Type 2
The symptoms of AGS type 2 can vary from person to person, but they often appear in the first year of life. Common symptoms include:
- Seizures
- Feeding difficulties
- Developmental delays
- Muscle stiffness
- Vision problems
As the disease progresses, individuals with AGS type 2 may experience more severe symptoms, including intellectual disability, spasticity, and blindness.
Diagnosis of AGS Type 2
Diagnosing AGS type 2 can be challenging, as the symptoms can be similar to other neurological disorders. However, there are several diagnostic tests that can be used to confirm a diagnosis of AGS type 2, including:
- Magnetic resonance imaging (MRI) to look for brain abnormalities
- Analysis of cerebrospinal fluid to look for signs of inflammation
- Genetic testing to identify mutations in the RNASEH2B gene
Cost of NGS Genetic Testing for AGS Type 2 in India
The cost of NGS Genetic Testing for AGS type 2 in India can vary depending on the laboratory and the specific tests performed. However, on average, the cost of NGS Genetic Testing for AGS type 2 in India is around INR 20,000.
Conclusion
AGS type 2 is a rare genetic disorder that affects the brain, skin, and immune system. It is caused by mutations in the RNASEH2B gene, which is responsible for producing an enzyme involved in DNA replication and repair. The symptoms of AGS type 2 can vary from person to person, but they often appear in the first year of life. Diagnosing AGS type 2 can be challenging, but there are several diagnostic tests that can be used to confirm a diagnosis. The cost of NGS Genetic Testing for AGS type 2 in India is around INR 20,000.
If you suspect that you or a loved one may have AGS type 2, it is important to speak with a healthcare professional. They can help you determine the best course of action and provide support throughout the diagnostic and treatment process.
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 RNASEH2B Gene Aicardi-Goutieres syndrome type 2 NGS Genetic Test
| Test Name | RNASEH2B Gene Aicardi-Goutieres Syndrome Type 2 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 RNASEH2B Gene Aicardi-Goutieres syndrome type 2 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with RNASEH2B Gene Aicardi-Goutieres syndrome type 2 |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for RNASEH2B Gene Aicardi-Goutieres syndrome type 2 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with RNASEH2B Gene Aicardi-Goutieres syndrome type 2 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for RNASEH2B Gene Aicardi-Goutieres Syndrome Type 2 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.
