EFTUD2 Gene Mandibulofacial Dysostosis with Microcephaly NGS Genetic Test Cost INR: 20000 Symptoms Diagnosis
Mandibulofacial dysostosis with microcephaly is a rare genetic disorder that affects the development of the face, skull, and brain. It is caused by mutations in the EFTUD2 gene, which provides instructions for making a protein that is essential for the normal development of these structures. This disorder can be diagnosed using a Next Generation Sequencing (NGS) Genetic Test, which costs INR 20,000 in India.
Symptoms of Mandibulofacial Dysostosis with Microcephaly
The symptoms of mandibulofacial dysostosis with microcephaly vary widely from person to person, even among members of the same family. Some of the most common symptoms include:
- Abnormal facial features, such as a small jaw and chin, widely spaced eyes, and a narrow forehead
- Microcephaly, or an abnormally small head size
- Hearing loss and other ear abnormalities
- Speech and language delays
- Developmental delays
- Intellectual disability
Diagnosis of Mandibulofacial Dysostosis with Microcephaly
Mandibulofacial dysostosis with microcephaly is typically diagnosed based on a combination of clinical features and genetic testing. A physical examination can reveal the characteristic facial features and head size abnormalities associated with the disorder. Genetic testing, including NGS Genetic Test, can confirm the diagnosis by identifying mutations in the EFTUD2 gene. This test is now available in India and costs INR 20,000.
NGS Genetic Test for Mandibulofacial Dysostosis with Microcephaly
NGS Genetic Test is a powerful tool for detecting genetic mutations associated with mandibulofacial dysostosis with microcephaly. This test uses next-generation sequencing technology to analyze the DNA of an individual and identify mutations in the EFTUD2 gene. This test is highly accurate and can detect even small changes in the DNA sequence that can cause the disorder.
Cost of NGS Genetic Test in India
The cost of NGS Genetic Test for mandibulofacial dysostosis with microcephaly in India is around INR 20,000. This cost may vary depending on the laboratory and location where the test is performed. It is important to choose a reputable laboratory that uses the latest technology and has experienced professionals to perform the test.
Conclusion
Mandibulofacial dysostosis with microcephaly is a rare genetic disorder that affects the development of the face, skull, and brain. It can be diagnosed using a NGS Genetic Test, which is now available in India at a cost of INR 20,000. Early diagnosis is important for appropriate management and treatment of the disorder.
Test Name | EFTUD2 Gene Mandibulofacial dysostosis with microcephaly NGS Genetic Test |
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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 EFTUD2 Gene Mandibulofacial dysostosis with microcephaly NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EFTUD2 Gene Mandibulofacial dysostosis with microcephaly NGS Genetic Test gene EFTUD2 |
Disease | Dysmorphology |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for EFTUD2 Gene Mandibulofacial dysostosis with microcephaly NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EFTUD2 Gene Mandibulofacial dysostosis with microcephaly NGS Genetic Test gene EFTUD2 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for EFTUD2 Gene Mandibulofacial dysostosis with microcephaly 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.