ATM Gene Ataxia-telangiectasia NGS Genetic Test: Symptoms, Diagnosis, and Cost
Ataxia-telangiectasia (A-T) is a rare genetic disorder that affects the nervous system, immune system, and other organs of the body. It is caused by mutations in the ATM gene, which is responsible for producing a protein that helps repair damaged DNA. A-T is usually diagnosed in childhood and can lead to severe disability and a shortened lifespan.
Symptoms of Ataxia-telangiectasia
The symptoms of A-T can vary widely from person to person, but typically include:
- Progressive difficulty with coordination and balance
- Slurred speech and difficulty swallowing
- Eye movement abnormalities
- Increased susceptibility to infections
- Delayed growth and development
In addition, many people with A-T develop small, red spider-like blood vessels called telangiectasias on their skin and in their eyes.
Diagnosis of Ataxia-telangiectasia
A-T is typically diagnosed through a combination of clinical evaluation, genetic testing, and laboratory tests. A physical exam may reveal some of the characteristic symptoms of A-T, such as balance problems or telangiectasias. A blood test can be used to look for mutations in the ATM gene.
Another important diagnostic tool is neuroimaging, such as magnetic resonance imaging (MRI), which can show abnormalities in the brain and spinal cord that are common in people with A-T.
NGS Genetic Test for Ataxia-telangiectasia
Next-generation sequencing (NGS) is a powerful tool for detecting genetic mutations associated with A-T. This test can analyze the entire ATM gene to identify any mutations that may be present. NGS testing is typically done using a blood or saliva sample.
The cost of an NGS Genetic Test for A-T in India is around INR 20,000.
Conclusion
Ataxia-telangiectasia is a rare genetic disorder that can cause significant disability and health problems. Early diagnosis is important for managing symptoms and providing appropriate medical care. NGS Genetic Testing can be a valuable tool for identifying mutations in the ATM gene and diagnosing A-T. If you or a loved one is experiencing symptoms of A-T, talk to your healthcare provider about whether genetic testing is appropriate.
At DNA Labs India, we offer NGS Genetic Testing for a range of genetic disorders, including Ataxia-telangiectasia. Our team of experienced genetic counselors and scientists can help you understand your test results and develop a personalized treatment plan. Contact us today to learn more.
Test Name | ATM Gene Ataxia-Telangiectasia 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 ATM Gene Ataxia-telangiectasia NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATM Gene Ataxia-telangiectasia |
Disease | Neurological Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for ATM Gene Ataxia-telangiectasia NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATM Gene Ataxia-telangiectasia |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ATM Gene Ataxia-Telangiectasia 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.