TCOF1 Gene Treacher Collins Syndrome Type 1 NGS Genetic Test Cost INR: 20000 Symptoms Diagnosis
Treacher Collins Syndrome (TCS) is a rare genetic disorder that affects the development of bones and other tissues in the face. It is also known as mandibulofacial dysostosis. This condition is caused by mutations in the TCOF1 gene, which provides instructions for making a protein called treacle. Treacle is involved in the formation and maturation of certain cells that form the bones and tissues of the face.
Treacher Collins Syndrome Type 1 is caused by mutations in the TCOF1 gene. Type 2 is caused by mutations in the POLR1C gene, and Type 3 is caused by mutations in the POLR1D gene. Treacher Collins Syndrome is inherited in an autosomal dominant pattern, which means that only one copy of the mutated gene is needed to cause the condition.
Symptoms of Treacher Collins Syndrome Type 1
The symptoms of Treacher Collins Syndrome Type 1 can vary in severity from person to person. Some common symptoms include:
- Underdeveloped cheekbones
- Small jaw and chin
- Abnormalities of the ears, including small or absent earlobes and external ear canal
- Cleft palate or other abnormalities of the roof of the mouth
- Small nostrils and/or airway blockage
Diagnosis of Treacher Collins Syndrome Type 1
Treacher Collins Syndrome Type 1 can be diagnosed through genetic testing. The most common test is Next Generation Sequencing (NGS) Genetic Test. This test analyzes the TCOF1 gene to detect mutations that may be responsible for the condition. It is a non-invasive test that can be performed using a blood sample or a sample of the patient’s saliva.
NGS Genetic Test is a highly accurate and reliable test that can detect mutations in the TCOF1 gene with a high degree of sensitivity. It is an important tool in the diagnosis and management of Treacher Collins Syndrome Type 1.
Cost of NGS Genetic Test for Treacher Collins Syndrome Type 1
The cost of NGS Genetic Test for Treacher Collins Syndrome Type 1 in India is approximately INR 20,000. The cost may vary depending on the location and laboratory where the test is performed. It is important to consult with a genetic counselor or healthcare provider to determine if genetic testing is necessary and to discuss the cost and options for testing.
Conclusion
Treacher Collins Syndrome Type 1 is a rare genetic disorder that can cause a range of physical abnormalities in the face and head. NGS Genetic Test is a highly accurate and reliable test that can detect mutations in the TCOF1 gene with a high degree of sensitivity. The cost of NGS Genetic Test for Treacher Collins Syndrome Type 1 in India is approximately INR 20,000. It is important to consult with a genetic counselor or healthcare provider to determine if genetic testing is necessary and to discuss the cost and options for testing.
Early diagnosis and management of Treacher Collins Syndrome Type 1 can help to improve the quality of life and outcomes for patients and their families.
Test Name | TCOF1 Gene Treacher Collins syndrome type 1 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 TCOF1 Gene Treacher Collins syndrome type 1 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TCOF1 Gene Treacher Collins syndrome type 1 NGS Genetic Test gene TCOF1 |
Disease | Dysmorphology |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for TCOF1 Gene Treacher Collins syndrome type 1 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TCOF1 Gene Treacher Collins syndrome type 1 NGS Genetic Test gene TCOF1 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for TCOF1 Gene Treacher Collins syndrome type 1 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.