SCA-1 (SPINOCEREBELLAR ATAXIA): ATXN1 GENE MUTATION Test Cost INR:2925 Symptoms Diagnosis

Spinocerebellar ataxia (SCA) is a group of genetic disorders that affect the cerebellum, the part of the brain that controls coordination and balance. SCA-1 is a type of SCA caused by a mutation in the ATXN1 gene. This gene provides instructions for making a protein called ataxin-1, which is important for the normal function of the cerebellum. When the ATXN1 gene is mutated, it produces a faulty version of ataxin-1 that accumulates in the brain and causes damage to the cerebellum.

Symptoms of SCA-1

The symptoms of SCA-1 can vary depending on the severity of the mutation and the age of onset. Generally, SCA-1 causes progressive problems with coordination and balance, which can lead to difficulty walking, standing, and performing fine motor tasks. Other symptoms of SCA-1 may include:

• Tremors
• Difficulty speaking
• Vision problems
• Difficulty swallowing
• Muscle stiffness and weakness

The symptoms of SCA-1 usually begin in adulthood, typically between the ages of 30 and 40. However, in rare cases, SCA-1 can also affect children.

Diagnosis of SCA-1

Diagnosis of SCA-1 usually involves a combination of clinical evaluation and genetic testing. A doctor may perform a neurological exam to assess the patient’s coordination, balance, and other neurological functions. They may also order imaging tests, such as a CT scan or MRI, to look for abnormalities in the brain.

The definitive diagnosis of SCA-1 is made through genetic testing. This involves analyzing a sample of the patient’s DNA to look for mutations in the ATXN1 gene. Genetic testing can confirm whether a patient has SCA-1 and can also help determine the severity of the mutation.

ATXN1 Gene Mutation Test Cost

The cost of the ATXN1 gene mutation test for SCA-1 in India is INR 2925. This price may vary depending on the laboratory or healthcare provider performing the test.

Conclusion

SCA-1 is a genetic disorder that can cause progressive problems with coordination and balance. The disorder is caused by a mutation in the ATXN1 gene, which produces a faulty version of a protein that damages the cerebellum. Diagnosis of SCA-1 usually involves a combination of clinical evaluation and genetic testing, with the ATXN1 gene mutation test costing INR 2925 in India. Early diagnosis and management of SCA-1 can help improve quality of life for affected individuals and their families.

If you suspect that you or a loved one may have SCA-1, it is important to seek medical attention and genetic testing to confirm a diagnosis. Contact DNA Labs India for more information on genetic testing for SCA-1 and other genetic disorders.

SCA1 is an autosomal dominant ataxia which manifests in early or middle adult life. It is characterized by progressive cerebellar ataxia of trunk & limbs, gait impairment, slow voluntary movements, scanning speech, tremors & nystagmoid eye movements. In SCA 1 there is a CAG trinucleotide repeat in chromosome 6p which gets affected & results in abnormal Ataxin-1 protein production.

 Note: We offer free home sample collection for online bookings for SCA-1 (Spinocerebellar Ataxia): ATXN1 Gene Mutation Test and the test costs a special discounted price of 2925 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.