ATXN1 Gene Spinocerebellar Ataxia Type 1: Symptoms, Diagnosis, and NGS Genetic Test Cost

Spinocerebellar ataxia type 1 (SCA1) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the ATXN1 gene, which provides instructions for making a protein called ataxin-1. When this protein is abnormal, it can build up in the brain and cause damage to the cerebellum, the part of the brain that controls movement and coordination.

Symptoms of SCA1

The symptoms of SCA1 usually appear in early adulthood, typically between the ages of 20 and 40. They may include:

• Problems with balance and coordination
• Trouble walking or standing
• Difficulty with fine motor skills, such as writing or buttoning clothes
• Slurred speech
• Difficulty swallowing
• Eye movement problems
• Muscle stiffness and spasms
• Memory and cognitive problems

The severity of these symptoms can vary widely between individuals, even within the same family. Some people with SCA1 may develop more severe symptoms earlier in life, while others may have a milder form of the disease that progresses more slowly.

Diagnosis of SCA1

SCA1 is diagnosed through a combination of clinical evaluation and genetic testing. A doctor will typically perform a physical exam and take a medical history to look for symptoms of the disease. They may also order imaging tests, such as an MRI, to look for changes in the brain that are characteristic of SCA1.

Genetic testing is the most definitive way to diagnose SCA1. This typically involves a blood or saliva sample, which is sent to a laboratory for analysis. The laboratory will look for mutations in the ATXN1 gene that are known to cause SCA1. If a mutation is found, the patient is diagnosed with SCA1.

NGS Genetic Test Cost for SCA1

Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once, including the ATXN1 gene. This can be a more cost-effective and efficient way to diagnose SCA1 compared to traditional genetic testing methods.

The cost of an NGS Genetic Test for SCA1 in India can vary depending on the laboratory and the specific test being performed. However, on average, the cost of an NGS Genetic Test for SCA1 in India is around INR 20,000.

It is important to note that genetic testing for SCA1 may not be covered by insurance in all cases. Patients should check with their insurance provider to see if genetic testing is covered and what their out-of-pocket costs may be.

Conclusion

SCA1 is a rare genetic disorder that can cause a range of symptoms, including problems with movement, coordination, and cognitive function. Diagnosis typically involves a combination of clinical evaluation and genetic testing. Next-generation sequencing can be a cost-effective and efficient way to diagnose SCA1, with an average cost of around INR 20,000 in India. Patients should check with their insurance provider to see if genetic testing is covered and what their out-of-pocket costs may be.

At DNA Labs India, we offer a range of genetic testing services, including NGS Genetic Testing for SCA1. Our state-of-the-art laboratory is staffed by experienced professionals who use the latest technology and techniques to provide accurate and reliable results. Contact us today to learn more about our services and how we can help you.

 Note: We offer free home sample collection for online bookings for ATXN1 Gene Spinocerebellar ataxia type 1, autosomal dominant 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.