Nx GEN SEQUENCING: ATAXIA-TELANGIECTASIA Test cost INR:23400 symptoms diagnosis
What is Ataxia-Telangiectasia?
Ataxia-Telangiectasia (A-T) is a rare, inherited neurodegenerative disorder that affects multiple organs and systems in the body. It is caused by mutations in the ATM gene, which is responsible for repairing damaged DNA. A-T is characterized by a progressive loss of muscle control (ataxia), immune system dysfunction, and an increased risk of cancer.
Symptoms of Ataxia-Telangiectasia
The symptoms of A-T usually appear in childhood, typically between the ages of 1 and 4 years. The most common symptoms of A-T include:
- Difficulty with coordination and balance (ataxia)
- Enlarged blood vessels on the surface of the skin (telangiectasia)
- Recurrent respiratory infections
- Delayed growth and development
- Increased risk of cancer, particularly lymphoma and leukemia
- Immune system dysfunction
Diagnosis of Ataxia-Telangiectasia
The diagnosis of A-T is based on a combination of clinical symptoms, family history, and laboratory testing. DNA sequencing of the ATM gene is required to confirm the diagnosis. Nx GEN SEQUENCING is a newer technology that can be used for genetic testing in A-T. This technology is more comprehensive and accurate than traditional genetic testing methods.
Nx GEN SEQUENCING: ATAXIA-TELANGIECTASIA Test cost INR:23400
DNA Labs India offers Nx GEN SEQUENCING testing for A-T at a cost of INR 23400. This test provides a comprehensive analysis of the ATM gene, allowing for more accurate diagnosis and identification of specific mutations that may be associated with A-T. The test can be performed on a blood or saliva sample and results are typically available within 2-3 weeks.
Conclusion
Ataxia-Telangiectasia is a rare, inherited disorder that can have serious health consequences. Early diagnosis is important for appropriate management and treatment. Nx GEN SEQUENCING is a newer technology that can provide more accurate and comprehensive genetic testing for A-T. DNA Labs India offers Nx GEN SEQUENCING for A-T at a cost of INR 23400.
If you suspect that you or a loved one may have A-T, it is important to speak with a healthcare provider and consider genetic testing.
Ataxia-telangiectasia (AT) is an autosomal recessive disorder presenting in the first decade of life with progressive telangiectatic lesions associated with deficit in cerebellar function & nystagmus.There is a high incidence of pulmonary infections and neoplasms of lymphatic & reticuloendothelial system. Associated tumors usually seen are Lymphomas, Hodgkin disease, Acute T cell leukemia & Breast cancer. Mutations in ATM gene reduce or eliminate the function of the ATM protein which causes AT.
Test Name | Nx Gen Sequencing: Ataxia-Telangiectasia 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.n. |
Test type | Neurologist |
Pre-test Information | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Disease | Genetic Disorders-Ataxia |
Method | NGS, Sanger sequencing |
Purpose | *ATM |
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: Ataxia-Telangiectasia 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.