TBXAS1 Gene and Ghosal Hematodiaphyseal Syndrome: Symptoms, Diagnosis, and NGS Genetic Test Cost
Ghosal hematodiaphyseal syndrome (GHDS) is a rare genetic disorder that affects the bones and blood cells. It is caused by mutations in the TBXAS1 gene, which provides instructions for making an enzyme called thromboxane synthase. Thromboxane synthase is involved in the production of thromboxane A2, a molecule that regulates blood clotting and constriction of blood vessels.
Symptoms of GHDS
The symptoms of GHDS can vary widely, even among family members who share the same genetic mutation. The most common symptoms include:
- Abnormal bone growth and remodeling
- Increased bone density
- Bone pain and fractures
- Anemia and other blood disorders
- Delayed growth and development
Diagnosis of GHDS
GHDS is diagnosed based on clinical symptoms, family history, and genetic testing. X-rays and bone scans can help identify abnormal bone growth and density. Blood tests can detect anemia and other blood disorders. Genetic testing can confirm the presence of mutations in the TBXAS1 gene.
NGS Genetic Test Cost
NGS Genetic Testing is a powerful tool for diagnosing genetic disorders like GHDS. This technology allows for the rapid sequencing of large portions of the genome, making it possible to identify mutations in genes like TBXAS1. The cost of NGS Genetic Testing for GHDS in India is typically around INR 20,000.
Conclusion
GHDS is a rare genetic disorder caused by mutations in the TBXAS1 gene. It can cause abnormal bone growth and density, as well as anemia and other blood disorders. Diagnosis of GHDS typically involves clinical symptoms, family history, and genetic testing. NGS Genetic Testing is a powerful tool for diagnosing GHDS and other genetic disorders, with a typical cost of INR 20,000 in India.
If you suspect that you or a family member may have GHDS, it is important to speak with a genetic counselor or healthcare provider for further evaluation and testing.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for TBXAS1 Gene Ghosal hematodiaphyseal syndrome NGS Genetic Test
Test Name | TBXAS1 Gene Ghosal hematodiaphyseal syndrome 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 TBXAS1 Gene Ghosal hematodiaphyseal syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TBXAS1 Gene Ghosal hematodiaphyseal syndrome NGS Genetic Test gene TBXAS1 |
Disease | Osteology Dermatology Immunology Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for TBXAS1 Gene Ghosal hematodiaphyseal syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TBXAS1 Gene Ghosal hematodiaphyseal syndrome NGS Genetic Test gene TBXAS1 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for TBXAS1 Gene Ghosal hematodiaphyseal syndrome 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.