XYLT1 Gene Desbuquois Dysplasia Type 2 NGS Genetic Test
Desbuquois Dysplasia Type 2 is a rare genetic disorder that affects bone growth. It is caused by mutations in the XYLT1 gene, which provides instructions for making an enzyme called xylosyltransferase 1. This enzyme is essential for the formation of certain molecules that help build bones and cartilage.
Symptoms of Desbuquois Dysplasia Type 2
The symptoms of Desbuquois Dysplasia Type 2 vary widely. Some people may have mild symptoms while others may have severe symptoms. Common symptoms include:
- Short stature
- Joint pain and stiffness
- Abnormal curvature of the spine
- Abnormalities in the hands and feet
- Facial abnormalities
Other symptoms may include hearing loss, respiratory problems, and heart defects.
Diagnosis of Desbuquois Dysplasia Type 2
Diagnosis of Desbuquois Dysplasia Type 2 is usually done through a physical examination, X-rays, and genetic testing. X-rays can show abnormalities in the bones and joints, while genetic testing can identify mutations in the XYLT1 gene.
NGS Genetic Test for XYLT1 Gene Desbuquois Dysplasia Type 2
Next-generation sequencing (NGS) is a powerful genetic testing technology that can identify mutations in the XYLT1 gene. This test can be done using a small sample of blood or saliva.
The cost of the NGS Genetic Test for XYLT1 Gene Desbuquois Dysplasia Type 2 in India is INR 20,000.
Conclusion
Desbuquois Dysplasia Type 2 is a rare genetic disorder that affects bone growth. It is caused by mutations in the XYLT1 gene, which can be identified through genetic testing. The NGS Genetic Test for XYLT1 Gene Desbuquois Dysplasia Type 2 is a powerful tool for diagnosing this condition. If you suspect that you or a loved one may have this condition, speak to a genetic counselor or healthcare provider to learn more about testing options.
For more information on genetic testing and DNA analysis, contact DNA Labs India.
| Test Name | XYLT1 Gene Desbuquois dysplasia type 2 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 XYLT1 Gene Desbuquois dysplasia type 2 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with XYLT1 Gene Desbuquois dysplasia type 2 NGS Genetic Test gene XYLT1 |
| Disease | Dysmorphology |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for XYLT1 Gene Desbuquois dysplasia type 2 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with XYLT1 Gene Desbuquois dysplasia type 2 NGS Genetic Test gene XYLT1 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for XYLT1 Gene Desbuquois dysplasia type 2 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.
