DDX59 Gene Orofaciodigital Syndrome Type 5 NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
Orofaciodigital syndrome type 5 (OFD5) is a rare genetic disorder that affects the development of the face, mouth, and digits. It is caused by mutations in the DDX59 gene, which provides instructions for making a protein involved in the formation of cilia.
NGS (Next-Generation Sequencing) Genetic Testing is a highly advanced technique used to identify mutations in genes associated with genetic disorders such as OFD5. The cost of an NGS Genetic Test for the DDX59 gene in India is approximately INR 20,000.
Symptoms of OFD5
OFD5 is characterized by a range of symptoms that can vary in severity and presentation. Some of the most common symptoms include:
- Abnormalities in the face, such as a small mouth, a short nose, and a cleft lip or palate
- Abnormalities in the digits, such as extra fingers or toes, fused fingers or toes, or missing digits
- Abnormalities in the kidneys, liver, and pancreas
- Intellectual disability or developmental delays
Diagnosis of OFD5
OFD5 is typically diagnosed through a combination of clinical evaluation, imaging studies, and genetic testing. A physical exam may reveal abnormalities in the face, mouth, and digits, while imaging studies such as X-rays and ultrasounds can reveal abnormalities in the kidneys, liver, and pancreas.
Genetic testing is the most definitive method for diagnosing OFD5. NGS Genetic Testing can identify mutations in the DDX59 gene that are associated with the disorder.
Conclusion
OFD5 is a rare genetic disorder that can have significant impacts on a person’s health and quality of life. NGS Genetic Testing is an important tool for diagnosing the disorder and identifying potential treatment options. While the cost of an NGS Genetic Test for the DDX59 gene in India is approximately INR 20,000, the benefits of early diagnosis and treatment can be invaluable.
It is important for individuals who suspect they may have OFD5 to speak with a qualified healthcare provider and consider genetic testing to determine the cause of their symptoms.
Test Name | DDX59 Gene Orofaciodigital syndrome type 5 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 DDX59 Gene Orofaciodigital syndrome type 5 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DDX59 Gene Orofaciodigital syndrome type 5 NGS Genetic Test gene DDX59 |
Disease | Dysmorphology |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for DDX59 Gene Orofaciodigital syndrome type 5 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DDX59 Gene Orofaciodigital syndrome type 5 NGS Genetic Test gene DDX59 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for DDX59 Gene Orofaciodigital syndrome type 5 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.