COL2A1 Gene Spondyloperipheral Dysplasia NGS Genetic Test
Spondyloperipheral dysplasia (SPD) is a rare genetic disorder that affects the skeletal system. It is caused by mutations in the COL2A1 gene, which provides instructions for making type II collagen. This protein is a major component of cartilage and other connective tissues in the body.
Symptoms of SPD
SPD is characterized by short stature, abnormal curvature of the spine, and malformations of the limbs. Other symptoms may include:
- Abnormal curvature of the fingers
- Clubfoot
- Flat feet
- Hearing loss
- Joint pain and stiffness
- Joint laxity
- Short fingers and toes
Diagnosis of SPD
SPD is diagnosed through a combination of physical exams, imaging tests, and genetic testing. X-rays and MRI scans can show abnormalities in the bones and joints, while genetic testing can identify mutations in the COL2A1 gene.
COL2A1 Gene Spondyloperipheral Dysplasia NGS Genetic Test
The COL2A1 gene spondyloperipheral dysplasia NGS Genetic Test is a genetic test that can identify mutations in the COL2A1 gene. This test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the gene and detect any variations that may be associated with SPD.
Cost of the Test
The cost of the COL2A1 gene spondyloperipheral dysplasia NGS Genetic Test is INR 20,000.
Benefits of the Test
The benefits of the COL2A1 gene spondyloperipheral dysplasia NGS Genetic Test include:
- Early diagnosis of SPD
- Identification of carriers of the mutation
- Accurate genetic counseling for affected individuals and their families
Conclusion
The COL2A1 gene spondyloperipheral dysplasia NGS Genetic Test is a valuable tool for the diagnosis and management of SPD. It can provide early detection and accurate genetic counseling for affected individuals and their families. With a cost of INR 20,000, this test is an affordable and effective option for those who may be at risk for SPD.
Contact DNA Labs India today to learn more about the COL2A1 gene spondyloperipheral dysplasia NGS Genetic Test and how it can benefit you.
| Test Name | COL2A1 Gene Spondyloperipheral dysplasia 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 COL2A1 Gene Spondyloperipheral dysplasia NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL2A1 Gene Spondyloperipheral dysplasia NGS Genetic Test gene COL2A1 |
| Disease | Dysmorphology |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for COL2A1 Gene Spondyloperipheral dysplasia NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL2A1 Gene Spondyloperipheral dysplasia NGS Genetic Test gene COL2A1 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for COL2A1 Gene Spondyloperipheral dysplasia 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.
