COL2A1 Gene Avascular Necrosis of the Femoral Head: Symptoms, Diagnosis and DNA Testing
Avascular necrosis of the femoral head (AVN) is a condition that occurs when the blood supply to the femoral head is disrupted, leading to bone death and collapse. There are many causes of AVN, including trauma, alcoholism, steroid use, and systemic diseases such as sickle cell anemia. However, AVN can also be caused by genetic factors, such as mutations in the COL2A1 gene.
The COL2A1 Gene and AVN
The COL2A1 gene provides instructions for making type II collagen, which is a protein that forms the structural framework of many tissues, including cartilage and bone. Mutations in this gene can lead to a range of skeletal disorders, including AVN.
One particular mutation in the COL2A1 gene has been linked to AVN. This mutation changes a single nucleotide in the gene, leading to the substitution of one amino acid for another in the type II collagen protein. This alteration affects the structure and stability of the protein, leading to a higher risk of AVN.
Symptoms of AVN
The symptoms of AVN can vary depending on the severity of the condition. In the early stages, there may be no symptoms at all. However, as the disease progresses, the following symptoms may develop:
- Pain in the hip or groin area, which may be mild at first but can become severe over time
- Limping or difficulty walking
- Stiffness in the hip joint
- Decreased range of motion in the hip joint
Diagnosis of AVN
Diagnosis of AVN typically involves a combination of physical examination, imaging tests, and laboratory tests. Your doctor may perform a physical exam to assess your range of motion and look for signs of pain or tenderness in the hip area.
Imaging tests, such as X-rays, MRI, or CT scans, can provide detailed images of the hip joint and show any structural changes or bone damage. In some cases, a bone scan may also be performed to determine the extent of bone damage.
Laboratory tests, such as blood tests or genetic testing, may also be used to help diagnose AVN. Genetic testing can be particularly useful in cases where there is a family history of AVN or other skeletal disorders.
NGS Genetic Test for COL2A1 Gene Mutation
If you have a family history of AVN or other skeletal disorders, you may want to consider genetic testing to determine if you carry the COL2A1 gene mutation. This can help you make informed decisions about your health and lifestyle, as well as provide valuable information for your family members.
NGS Genetic Testing is a non-invasive test that analyzes your DNA for specific mutations, including the COL2A1 gene mutation. The test is performed using a simple saliva or blood sample and provides accurate results within a few weeks.
Cost of NGS Genetic Test
The cost of NGS Genetic Testing for COL2A1 gene mutation is approximately INR 20,000. However, the cost may vary depending on the testing facility and location.
Conclusion
If you are experiencing symptoms of AVN or have a family history of skeletal disorders, it may be worth considering genetic testing for the COL2A1 gene mutation. This can help you get an accurate diagnosis and make informed decisions about your health and lifestyle. Talk to your doctor or a genetic counselor to learn more about NGS Genetic Testing and how it can benefit you.
| Test Name | COL2A1 Gene Avascular necrosis of the femoral head, primary NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | Dermatologist |
| Pre-test Information | Clinical History of Patient who is going for COL2A1 Gene Avascular necrosis of the femoral head, primary NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL2A1 Gene Avascular necrosis of the femoral head, primary NGS Genetic Test gene COL2A1 |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for COL2A1 Gene Avascular necrosis of the femoral head, primary NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL2A1 Gene Avascular necrosis of the femoral head, primary 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 Avascular necrosis of the femoral head, primary 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.
