KCNC3 Gene Spinocerebellar Ataxia Type 13: Symptoms, Diagnosis, and Genetic Testing
Spinocerebellar ataxia type 13 (SCA13) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the KCNC3 gene, which provides instructions for making a protein that helps regulate the flow of potassium ions in nerve cells. When this protein is not functioning properly, it can lead to the degeneration of nerve cells in the cerebellum, the part of the brain that controls movement and coordination.
Symptoms of SCA13
The symptoms of SCA13 typically appear in adulthood and progress slowly over time. They can include:
- Uncoordinated movements
- Trouble with balance and gait
- Tremors or involuntary movements
- Difficulty with speech and swallowing
- Problems with eye movements
These symptoms can vary in severity and may worsen over time. In some cases, individuals with SCA13 may also experience cognitive impairment, depression, or anxiety.
Diagnosis of SCA13
SCA13 is diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies. A neurologist or genetic counselor will typically perform a physical examination and take a medical history to look for signs of ataxia and other neurological symptoms. They may also order imaging studies such as MRI or CT scans to look for changes in the brain.
Genetic testing is the most reliable way to confirm a diagnosis of SCA13. This involves analyzing a sample of DNA from the individual to look for mutations in the KCNC3 gene. There are several types of genetic tests that can be used to diagnose SCA13, including:
- Targeted sequencing: This tests specific regions of the KCNC3 gene for mutations.
- Whole-exome sequencing: This tests all of the protein-coding genes in an individual’s DNA.
- Whole-genome sequencing: This tests an individual’s entire genome, including all of their genes and non-coding DNA.
Genetic Testing for SCA13
If you or a loved one has been diagnosed with SCA13 or is experiencing symptoms of ataxia, genetic testing may be recommended. DNA Labs India offers NGS genetic testing for SCA13 that uses targeted sequencing to analyze specific regions of the KCNC3 gene. This test has a turnaround time of approximately 2-3 weeks and costs INR 20,000.
Genetic testing can provide important information about the underlying cause of ataxia and help guide treatment and management decisions. It can also be used for family planning purposes, as individuals who carry mutations in the KCNC3 gene have a 50% chance of passing the condition on to their children.
If you are interested in learning more about genetic testing for SCA13 or other genetic conditions, contact DNA Labs India to speak with a genetic counselor or schedule a consultation.
Disclaimer: This blog is for informational purposes only and should not be used as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition.
Key Takeaways:
- SCA13 is a rare genetic disorder that affects the nervous system and is caused by mutations in the KCNC3 gene.
- Symptoms of SCA13 include uncoordinated movements, trouble with balance and gait, tremors or involuntary movements, difficulty with speech and swallowing, and problems with eye movements.
- SCA13 is diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies.
- Genetic testing is the most reliable way to confirm a diagnosis of SCA13.
- DNA Labs India offers NGS genetic testing for SCA13 that uses targeted sequencing to analyze specific regions of the KCNC3 gene.
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 KCNC3 Gene Spinocerebellar ataxia type 13, autosomal dominant NGS Genetic Test
| Test Name | KCNC3 Gene Spinocerebellar ataxia type 13, 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 KCNC3 Gene Spinocerebellar ataxia type 13, autosomal dominant NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with KCNC3 Gene Spinocerebellar ataxia type 13, autosomal dominant |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for KCNC3 Gene Spinocerebellar ataxia type 13, autosomal dominant NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with KCNC3 Gene Spinocerebellar ataxia type 13, autosomal dominant |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for KCNC3 Gene Spinocerebellar ataxia type 13, 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.
