CANT1 Gene Desbuquois Dysplasia Type 1 NGS Genetic Test
Desbuquois dysplasia type 1 is a rare genetic disorder that affects bone growth and development. It is caused by mutations in the CANT1 gene, which provides instructions for making an enzyme that helps break down complex sugars in the body. When the CANT1 gene is mutated, the enzyme cannot function properly, leading to abnormal bone growth and development.
Symptoms of Desbuquois Dysplasia Type 1
Symptoms of Desbuquois dysplasia type 1 can vary widely in severity, but may include:
- Short stature
- Abnormal curvature of the spine (scoliosis)
- Joint stiffness and pain
- Abnormal bone growth and development
- Facial abnormalities
- Intellectual disability (in rare cases)
Diagnosis of Desbuquois Dysplasia Type 1
Diagnosis of Desbuquois dysplasia type 1 typically involves a physical exam, medical history review, and genetic testing. Genetic testing can confirm the presence of mutations in the CANT1 gene and help diagnose the condition.
CANT1 Gene Desbuquois Dysplasia Type 1 NGS Genetic Test
The CANT1 gene Desbuquois dysplasia type 1 NGS Genetic Test is a diagnostic test that can detect mutations in the CANT1 gene. The test uses next-generation sequencing (NGS) technology to analyze the entire CANT1 gene, providing highly accurate results.
The cost of the CANT1 gene Desbuquois dysplasia type 1 NGS Genetic Test is INR 20,000 in India.
Benefits of the CANT1 Gene Desbuquois Dysplasia Type 1 NGS Genetic Test
The CANT1 gene Desbuquois dysplasia type 1 NGS Genetic Test offers several benefits:
- Highly accurate results
- Non-invasive testing (only a blood sample is required)
- Early diagnosis and treatment
- Allows for genetic counseling and family planning
Conclusion
Desbuquois dysplasia type 1 is a rare genetic disorder that can cause a range of symptoms, including short stature, joint stiffness and pain, abnormal bone growth and development, and facial abnormalities. The CANT1 gene Desbuquois dysplasia type 1 NGS Genetic Test is a diagnostic test that can detect mutations in the CANT1 gene and help diagnose the condition. The test offers several benefits, including highly accurate results, non-invasive testing, and early diagnosis and treatment.
If you suspect that you or a loved one may have Desbuquois dysplasia type 1, talk to your doctor about the CANT1 gene Desbuquois dysplasia type 1 NGS Genetic Test and whether it is right for you.
| Test Name | CANT1 Gene Desbuquois dysplasia 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 CANT1 Gene Desbuquois dysplasia type 1 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CANT1 Gene Desbuquois dysplasia type 1 NGS Genetic Test gene CANT1 |
| Disease | Dysmorphology |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for CANT1 Gene Desbuquois dysplasia type 1 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CANT1 Gene Desbuquois dysplasia type 1 NGS Genetic Test gene CANT1 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for CANT1 Gene Desbuquois dysplasia 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.
