KCNH1 Gene Temple-Baraitser Syndrome NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
Temple-Baraitser syndrome (TBS) is a rare genetic disorder that affects the development of the brain and other parts of the body. It is caused by mutations in the KCNH1 gene and is inherited in an autosomal dominant pattern. TBS is characterized by intellectual disability, developmental delay, seizures, and distinctive facial features.
KCNH1 Gene and Temple-Baraitser Syndrome
The KCNH1 gene provides instructions for making a protein that helps regulate the flow of charged particles (ions) into and out of cells. This protein is important for the normal functioning of nerve cells, including those in the brain. Mutations in the KCNH1 gene can disrupt the normal activity of the protein, leading to the signs and symptoms of Temple-Baraitser syndrome.
Symptoms of Temple-Baraitser Syndrome
Temple-Baraitser syndrome is a rare genetic disorder that affects the development of the brain and other parts of the body. The symptoms of TBS can vary widely from person to person, but may include:
- Intellectual disability
- Developmental delay
- Seizures
- Distinctive facial features, including a small head, a small jaw, and low-set ears
- Abnormalities of the hands and feet, such as short fingers and toes, and missing or fused bones
- Abnormal curvature of the spine (scoliosis)
Diagnosis of Temple-Baraitser Syndrome
Temple-Baraitser syndrome is diagnosed based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis by identifying mutations in the KCNH1 gene. Next-generation sequencing (NGS) is a type of genetic test that can analyze multiple genes at once, making it a useful tool for diagnosing rare genetic disorders like TBS.
NGS Genetic Test Cost INR:20000
The cost of NGS Genetic Testing for Temple-Baraitser syndrome in India is typically around INR 20,000. This cost may vary depending on the specific testing facility and any additional services that may be required, such as genetic counseling.
Conclusion
Temple-Baraitser syndrome is a rare genetic disorder that affects the development of the brain and other parts of the body. It is caused by mutations in the KCNH1 gene and is inherited in an autosomal dominant pattern. The symptoms of TBS can vary widely from person to person, but may include intellectual disability, developmental delay, seizures, and distinctive facial features. NGS Genetic Testing can confirm the diagnosis of TBS, and the cost of this testing in India is typically around INR 20,000.
If you suspect that you or a loved one may have Temple-Baraitser syndrome, it is important to consult a healthcare professional for diagnosis and treatment. Genetic counseling may also be helpful for understanding the inheritance pattern of this disorder and making informed decisions about family planning.
At DNA Labs India, we offer a range of genetic testing services, including NGS Genetic Testing for rare genetic disorders like Temple-Baraitser syndrome. Contact us today to learn more about our services and how we can help you.
| Test Name | KCNH1 Gene Temple-Baraitser syndrome NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | Pediatrics |
| Pre-test Information | Clinical History of Patient who is going for KCNH1 Gene Temple-Baraitser syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KCNH1 Gene Temple-Baraitser syndrome NGS Genetic Test gene KCNH1 |
| Disease | Dysmorphology |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for KCNH1 Gene Temple-Baraitser syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KCNH1 Gene Temple-Baraitser syndrome NGS Genetic Test gene KCNH1 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for KCNH1 Gene Temple-Baraitser syndrome 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.
