PPP2R2B Gene Spinocerebellar Ataxia Type 12, Autosomal Dominant NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
Spinocerebellar ataxia type 12 (SCA12) is a rare genetic disorder that affects the nervous system. It is caused by a mutation in the PPP2R2B gene, which provides instructions for making a protein called protein phosphatase 2A regulatory subunit B beta. This protein helps to regulate the activity of other proteins in the brain, including those involved in the development and function of nerve cells.
SCA12 is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. Symptoms of SCA12 usually begin in adulthood and can include difficulty with coordination and balance, tremors, and problems with speech and swallowing.
Diagnosis of SCA12
Diagnosis of SCA12 can be made through genetic testing, which looks for mutations in the PPP2R2B gene. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once, making it a faster and more efficient way to diagnose SCA12. NGS testing for SCA12 typically costs around INR 20,000.
Symptoms of SCA12
The symptoms of SCA12 can vary from person to person, but generally include:
- Difficulty with coordination and balance
- Tremors
- Problems with speech and swallowing
- Muscle stiffness and rigidity
- Difficulty with fine motor skills, such as writing or buttoning a shirt
Treatment of SCA12
Currently, there is no cure for SCA12. Treatment is focused on managing symptoms and improving quality of life. This can include physical therapy to improve coordination and balance, speech therapy to improve communication, and medications to manage tremors and other symptoms.
Conclusion
If you or someone you know is experiencing symptoms of SCA12, it is important to seek medical attention. Genetic testing, including NGS testing, can help to diagnose the condition and guide treatment options. While there is no cure for SCA12, early diagnosis and treatment can help to manage symptoms and improve quality of life.
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 PPP2R2B Gene Spinocerebellar ataxia type 12, autosomal dominant NGS Genetic Test
| Test Name | PPP2R2B Gene Spinocerebellar ataxia type 12, autosomal dominant 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 PPP2R2B Gene Spinocerebellar ataxia type 12, autosomal dominant NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with PPP2R2B Gene Spinocerebellar ataxia type 12, autosomal dominant |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for PPP2R2B Gene Spinocerebellar ataxia type 12, autosomal dominant NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with PPP2R2B Gene Spinocerebellar ataxia type 12, autosomal dominant |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PPP2R2B Gene Spinocerebellar ataxia type 12, 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.
