KCNQ2 Gene Early Infantile Epileptic Encephalopathy Type 7 NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
Early infantile epileptic encephalopathy (EIEE) is a severe neurological disorder that affects infants in their first year of life. It is characterized by frequent seizures, developmental delays, and intellectual disability. EIEE type 7, also known as KCNQ2-related epileptic encephalopathy, is caused by mutations in the KCNQ2 gene. The KCNQ2 gene provides instructions for making a protein that helps regulate the flow of positively charged ions in and out of cells in the brain. Mutations in this gene disrupt the normal function of the protein, leading to abnormal electrical activity in the brain and seizures.
Symptoms
The symptoms of EIEE type 7 usually appear within the first few weeks of life. Infants may experience frequent seizures that are difficult to control with medication. These seizures can take many forms, including focal seizures, tonic seizures, and myoclonic seizures. Other symptoms may include:
- Poor feeding
- Developmental delays
- Intellectual disability
- Abnormal muscle tone
- Abnormal eye movements
- Abnormal brain waves on an electroencephalogram (EEG)
Diagnosis
EIEE type 7 is diagnosed based on the presence of characteristic symptoms and genetic testing. A genetic test can identify mutations in the KCNQ2 gene that are associated with EIEE type 7. This test can be done using a technique called next-generation sequencing (NGS), which can analyze multiple genes at once.
NGS Genetic Test Cost
The cost of an NGS Genetic Test for EIEE type 7 is approximately INR 20,000 in India. This cost may vary depending on the laboratory and location. It is important to check with the laboratory about the cost and insurance coverage before undergoing testing.
Conclusion
EIEE type 7 is a rare but severe neurological disorder that affects infants. It is caused by mutations in the KCNQ2 gene and is characterized by frequent seizures, developmental delays, and intellectual disability. Genetic testing using NGS can help diagnose EIEE type 7 and provide valuable information for treatment and management. The cost of this test may vary, so it is important to check with the laboratory about the cost and insurance coverage.
If you suspect that your child may have EIEE type 7 or any other genetic disorder, it is important to consult a genetic counselor or healthcare provider for guidance and support.
At DNA Labs India, we offer a wide range of genetic tests, including NGS, to help diagnose and manage genetic disorders. Our team of genetic counselors and healthcare professionals can provide support and guidance throughout the testing process. Contact us today to learn more.
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 KCNQ2 Gene Early infantile epileptic encephalopathy type 7 NGS Genetic Test
| Test Name | KCNQ2 Gene Early infantile epileptic encephalopathy type 7 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 KCNQ2 Gene Early infantile epileptic encephalopathy type 7 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with KCNQ2 Gene Early infantile epileptic encephalopathy type 7 |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for KCNQ2 Gene Early infantile epileptic encephalopathy type 7 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with KCNQ2 Gene Early infantile epileptic encephalopathy type 7 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for KCNQ2 Gene Early infantile epileptic encephalopathy type 7 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.
