SLC2A1 Gene Epilepsy: A Comprehensive Guide
Epilepsy is a neurological disorder characterized by recurrent seizures. It affects millions of people worldwide and can cause significant physical and psychological harm. Idiopathic generalized epilepsy (IGE) is a subtype of epilepsy that typically presents in childhood or adolescence and affects both sexes equally. It is characterized by generalized seizures that originate from the brain’s thalamus.
SLC2A1 Gene Epilepsy, also known as GLUT1 Deficiency Syndrome, is a rare form of IGE caused by mutations in the SLC2A1 gene. This gene provides instructions for making a protein called glucose transporter type 1 (GLUT1), which is responsible for transporting glucose into the brain. Mutations in this gene can lead to a deficiency of GLUT1, resulting in decreased glucose transport to the brain, which can cause seizures and other neurological symptoms.
Symptoms of SLC2A1 Gene Epilepsy
SLC2A1 Gene Epilepsy is characterized by a variety of symptoms that can vary in severity and presentation. Some of the most common symptoms include:
- Seizures that are often resistant to medication
- Developmental delay
- Motor abnormalities, including spasticity and ataxia
- Language and speech difficulties
- Behavioral problems, including hyperactivity and attention deficit
- Migraine headaches
- Low blood sugar (hypoglycemia)
Diagnosis of SLC2A1 Gene Epilepsy
Diagnosing SLC2A1 Gene Epilepsy can be challenging, as the symptoms can be similar to those of other neurological disorders. However, a diagnosis can be made through genetic testing, which can identify mutations in the SLC2A1 gene. An electroencephalogram (EEG) can also be used to detect abnormal brain activity, which is often present in individuals with SLC2A1 Gene Epilepsy.
NGS Genetic Test for SLC2A1 Gene Epilepsy
NGS Genetic Testing is a powerful tool used to detect genetic mutations associated with a variety of disorders, including SLC2A1 Gene Epilepsy. This test uses next-generation sequencing technology to analyze an individual’s DNA and identify mutations in the SLC2A1 gene.
The cost of NGS Genetic Testing for SLC2A1 Gene Epilepsy in India is approximately INR 20,000. This test can be ordered by a healthcare provider and involves taking a small blood sample from the patient, which is then sent to a laboratory for analysis.
Conclusion
SLC2A1 Gene Epilepsy is a rare form of IGE caused by mutations in the SLC2A1 gene. It can cause a variety of neurological symptoms, including seizures, developmental delay, and motor abnormalities. However, a diagnosis can be made through genetic testing, which can identify mutations in the SLC2A1 gene. NGS Genetic Testing is a powerful tool used to detect genetic mutations associated with SLC2A1 Gene Epilepsy, and the cost of this test in India is approximately INR 20,000.
If you or a loved one is experiencing symptoms of SLC2A1 Gene Epilepsy, it is important to seek medical attention promptly. A healthcare provider can perform the necessary tests to diagnose the condition and develop a treatment plan that is tailored to the individual’s needs.
At DNA Labs India, we offer a range of genetic testing services, including NGS Genetic Testing for SLC2A1 Gene Epilepsy. Contact us today to learn more about our services and how we can help you.
Test Name | SLC2A1 Gene Epilepsy, idiopathic generalized type 12 NGS Genetic Test |
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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 SLC2A1 Gene Epilepsy, idiopathic generalized type 12 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC2A1 Gene Epilepsy, idiopathic generalized type 12 |
Disease | Neurological Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for SLC2A1 Gene Epilepsy, idiopathic generalized type 12 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC2A1 Gene Epilepsy, idiopathic generalized type 12 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for SLC2A1 Gene Epilepsy, idiopathic generalized type 12 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.