GDF2 Gene Telangiectasia Hereditary Hemorrhagic Type 5 NGS Genetic Test
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease, is a genetic disorder that affects blood vessels and can cause recurrent nosebleeds, skin lesions, and gastrointestinal bleeding. HHT is caused by mutations in several genes, including the GDF2 gene, which is associated with HHT type 5.
The GDF2 gene encodes a protein called bone morphogenetic protein 9 (BMP9), which plays a key role in blood vessel development. Mutations in the GDF2 gene can disrupt BMP9 signaling, leading to the formation of abnormal blood vessels and the characteristic symptoms of HHT type 5.
Symptoms of HHT type 5
The symptoms of HHT type 5 can vary widely from person to person, even within the same family. Some people may have only mild symptoms, while others may experience severe bleeding and other complications. The most common symptoms of HHT type 5 include:
- Recurrent nosebleeds
- Multiple telangiectases (small, dilated blood vessels) on the skin or mucous membranes
- Gastrointestinal bleeding
- Arteriovenous malformations (AVMs) in the lungs, liver, brain, or other organs
Diagnosis of HHT type 5
HHT type 5 is diagnosed based on a combination of clinical features and genetic testing. A doctor may suspect HHT type 5 based on a patient’s symptoms and family history. A physical examination may reveal telangiectases on the skin or mucous membranes, and imaging tests such as CT scans or MRIs may be used to detect AVMs in the organs.
Genetic testing can confirm a diagnosis of HHT type 5 by identifying mutations in the GDF2 gene. Next-generation sequencing (NGS) is a powerful tool for genetic testing that can analyze multiple genes simultaneously and detect even rare variants. NGS can be performed on a blood or saliva sample and typically takes several weeks to produce results.
Cost of NGS Genetic Test
The cost of NGS Genetic Testing for HHT type 5 can vary depending on the laboratory and the specific test ordered. At DNA Labs India, the cost of NGS Genetic Testing for HHT type 5 is INR 20,000. This includes the cost of sample collection, DNA extraction, NGS analysis, and interpretation of results by a board-certified genetic counselor.
Conclusion
HHT type 5 is a rare genetic disorder that can cause a range of symptoms, including recurrent nosebleeds, skin lesions, and gastrointestinal bleeding. Genetic testing can confirm a diagnosis of HHT type 5 and help guide treatment and management options. NGS Genetic Testing is a powerful tool for diagnosing HHT type 5 and other genetic disorders, and DNA Labs India offers affordable and reliable testing services for patients and healthcare providers.
If you or a loved one is experiencing symptoms of HHT type 5 or other genetic disorders, contact DNA Labs India to learn more about our testing options and services.
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 GDF2 Gene Telangiectasia hereditary hemorrhagic type 5 NGS Genetic Test
| Test Name | GDF2 Gene Telangiectasia hereditary hemorrhagic type 5 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 GDF2 Gene Telangiectasia hereditary hemorrhagic type 5 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GDF2 Gene Telangiectasia hereditary hemorrhagic type 5 NGS Genetic Test gene GDF2 |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for GDF2 Gene Telangiectasia hereditary hemorrhagic type 5 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GDF2 Gene Telangiectasia hereditary hemorrhagic type 5 NGS Genetic Test gene GDF2 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for GDF2 Gene Telangiectasia hereditary hemorrhagic type 5 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.
