PLEKHG4 Gene Spinocerebellar Ataxia Type 4: Symptoms, Diagnosis, and Genetic Testing Cost in India
Spinocerebellar ataxia type 4 (SCA4) is a rare genetic disorder that affects the nervous system. It is caused by a mutation in the PLEKHG4 gene, which encodes a protein that is important for the function of nerve cells in the cerebellum and spinal cord. SCA4 is inherited in an autosomal dominant manner, meaning that a person only needs to inherit one mutated copy of the gene from one parent to develop the disorder.
Symptoms of Spinocerebellar Ataxia Type 4
SCA4 typically develops in mid to late adulthood, with symptoms that worsen over time. The most common symptoms of SCA4 include:
- Unsteadiness and difficulty with balance
- Trouble with coordination and fine motor skills
- Slurred speech
- Difficulty swallowing
- Eye movement abnormalities
- Progressive muscle weakness and atrophy
These symptoms are caused by the degeneration of nerve cells in the cerebellum and spinal cord, which are responsible for controlling movement and coordination.
Diagnosis of Spinocerebellar Ataxia Type 4
Diagnosis of SCA4 usually involves a combination of clinical evaluation, genetic testing, and imaging studies. A doctor may perform a neurological exam to assess the patient’s muscle strength, reflexes, coordination, and balance. Imaging studies such as MRI or CT scans may also be done to look for structural abnormalities in the brain.
Genetic testing is the most definitive way to diagnose SCA4. A blood or saliva sample is collected from the patient and analyzed for mutations in the PLEKHG4 gene. If a mutation is found, the patient is diagnosed with SCA4.
NGS Genetic Test Cost in India
NGS (next-generation sequencing) genetic testing is a powerful tool for diagnosing genetic disorders such as SCA4. It allows for the rapid and accurate sequencing of large portions of the genome, making it possible to identify mutations in genes associated with specific diseases.
The cost of NGS genetic testing in India can vary depending on the provider and the specific tests being performed. However, on average, the cost of an NGS Genetic Test for SCA4 in India is around INR 20,000.
Conclusion
Spinocerebellar ataxia type 4 is a rare genetic disorder that can cause significant disability over time. However, with early diagnosis and proper management, patients can receive appropriate care and support to help manage their symptoms. Genetic testing, including NGS, is an important tool for diagnosing SCA4 and other genetic disorders, and can help patients and their families make informed decisions about their healthcare.
If you suspect that you or a loved one may have SCA4, it is important to speak with a healthcare provider to determine the best course of action.
For more information or to schedule an appointment with a genetic counselor or healthcare provider, contact DNA Labs India today.
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 PLEKHG4 Gene Spinocerebellar ataxia type 4, autosomal dominant NGS Genetic Test
| Test Name | PLEKHG4 Gene Spinocerebellar ataxia type 4, 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 PLEKHG4 Gene Spinocerebellar ataxia type 4, autosomal dominant NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with PLEKHG4 Gene Spinocerebellar ataxia type 4, autosomal dominant |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for PLEKHG4 Gene Spinocerebellar ataxia type 4, autosomal dominant NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with PLEKHG4 Gene Spinocerebellar ataxia type 4, autosomal dominant |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PLEKHG4 Gene Spinocerebellar ataxia type 4, 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.
