TNFSF11 Gene and Osteopetrosis: Symptoms, Diagnosis, and NGS Genetic Test Cost
Osteopetrosis is a rare genetic disorder that affects bone development and leads to abnormal bone growth. It is caused by mutations in various genes that are involved in bone remodeling and maintenance. One of the genes implicated in osteopetrosis is TNFSF11, which codes for a protein called RANK ligand. Mutations in this gene can lead to autosomal recessive type 2 osteopetrosis, a severe form of the disease that affects infants and young children. In this blog, we will discuss the symptoms, diagnosis, and NGS Genetic Test cost associated with TNFSF11 gene-related osteopetrosis.
Symptoms of TNFSF11 Gene-Related Osteopetrosis
The symptoms of autosomal recessive type 2 osteopetrosis can vary depending on the severity of the disease. Infants and young children with the condition may have:
- Delayed motor development
- Failure to thrive
- Recurrent infections
- Bone fractures
- Deafness or hearing loss
- Vision problems
As the disease progresses, it can lead to bone marrow failure, which can cause anemia, low platelet counts, and a weakened immune system. Some individuals with osteopetrosis may also develop neurological problems, such as hydrocephalus or seizures.
Diagnosis of TNFSF11 Gene-Related Osteopetrosis
Osteopetrosis can be diagnosed through a combination of clinical evaluation, imaging studies, and genetic testing. X-rays and CT scans can show the characteristic bone abnormalities associated with the disease, such as thickened bones and reduced bone marrow space. Blood tests can also reveal abnormal blood cell counts and low vitamin D levels.
Genetic testing is the most definitive way to diagnose osteopetrosis and identify the underlying genetic mutation. NGS Genetic Testing can sequence the entire TNFSF11 gene and detect mutations that are associated with osteopetrosis. This type of testing can also identify carriers of the mutation, who may not have symptoms but can pass the mutation on to their children.
NGS Genetic Test Cost for TNFSF11 Gene-Related Osteopetrosis
The cost of NGS Genetic Testing for TNFSF11 gene-related osteopetrosis in India is around INR 20,000. This cost may vary depending on the specific testing facility and the extent of testing required. Some insurance plans may cover the cost of genetic testing if it is deemed medically necessary.
It is important to note that genetic testing is not always necessary for a diagnosis of osteopetrosis. Other diagnostic tests, such as imaging studies and blood tests, can provide valuable information about the disease. However, genetic testing can be useful for confirming a diagnosis, identifying carriers, and providing information about the risk of recurrence in future pregnancies.
Conclusion
TNFSF11 gene-related osteopetrosis is a rare genetic disorder that can cause severe bone abnormalities and other health problems. Genetic testing can be a valuable tool for diagnosing the disease, identifying carriers, and providing information about the risk of recurrence. If you or someone you know is experiencing symptoms of osteopetrosis, it is important to seek medical attention and consider genetic testing as part of the diagnostic process.
At DNA Labs India, we offer NGS Genetic Testing for TNFSF11 gene-related osteopetrosis and other genetic disorders. Our state-of-the-art testing facilities and experienced genetic counselors can provide you with the information and support you need to make informed decisions about your health. Contact us today to learn more about our genetic testing services.
| Test Name | TNFSF11 Gene Osteopetrosis, autosomal recessive type 2 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 TNFSF11 Gene Osteopetrosis, autosomal recessive type 2 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TNFSF11 Gene Osteopetrosis, autosomal recessive type 2 NGS Genetic Test gene TNFSF11 |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for TNFSF11 Gene Osteopetrosis, autosomal recessive type 2 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TNFSF11 Gene Osteopetrosis, autosomal recessive type 2 NGS Genetic Test gene TNFSF11 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for TNFSF11 Gene Osteopetrosis, autosomal recessive 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.
