COL2A1 Gene Achondrogenesis type 2 NGS Genetic Test
COL2A1 gene is responsible for producing collagen type 2 protein, which is essential for the development of bones and cartilage. Achondrogenesis type 2 is a rare genetic disorder caused by mutations in the COL2A1 gene, which affects the growth of bones and cartilage. This disorder is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the mutation to their offspring.
Symptoms of Achondrogenesis type 2
Achondrogenesis type 2 is characterized by severe skeletal abnormalities, which can be detected during pregnancy via ultrasound. Some of the common symptoms include:
- Shortened limbs and torso
- Abnormal curvature of the spine
- Small chest and lungs
- Underdeveloped facial features
- Low birth weight
- Stillbirth or neonatal death
Diagnosis of Achondrogenesis type 2
Achondrogenesis type 2 can be diagnosed during pregnancy via ultrasound, which can detect the skeletal abnormalities. However, a definitive diagnosis can only be made through genetic testing, which involves analyzing the COL2A1 gene for mutations. Next-generation sequencing (NGS) is a powerful tool that can analyze multiple genes simultaneously, making it an efficient and cost-effective method for genetic testing.
NGS Genetic Test cost
The cost of the NGS Genetic Test for Achondrogenesis type 2 at DNA Labs India is INR 20,000. This includes the cost of sample collection, DNA extraction, sequencing, and analysis. The test can be performed on a blood or saliva sample, and the results are usually available within 2-3 weeks.
Conclusion
Achondrogenesis type 2 is a rare genetic disorder that can cause severe skeletal abnormalities. Early diagnosis through genetic testing can help parents make informed decisions about their pregnancy and plan for appropriate medical care. The NGS Genetic Test for Achondrogenesis type 2 offered by DNA Labs India is an efficient and cost-effective method for genetic testing.
If you have any concerns about Achondrogenesis type 2 or would like to schedule a genetic test, please contact DNA Labs India today.
| Test Name | COL2A1 Gene Achondrogenesis 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 COL2A1 Gene Achondrogenesis type 2 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL2A1 Gene Achondrogenesis type 2 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 Achondrogenesis type 2 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL2A1 Gene Achondrogenesis type 2 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 Achondrogenesis 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.
