Short-Rib Thoracic Dysplasia Type 2 with or without Polydactyly: Understanding the IFT80 Gene and the NGS Genetic Test Cost in India
Short-rib thoracic dysplasia type 2 with or without polydactyly (SRTD2) is a rare genetic disorder that affects the development of bones and other body tissues. It is caused by mutations in the IFT80 gene, which provides instructions for making a protein that is essential for the formation of cilia, the tiny hair-like structures that help cells move and communicate with each other. When the IFT80 gene is mutated, cilia formation is disrupted, leading to a range of developmental abnormalities.
Symptoms of SRTD2
The symptoms of SRTD2 can vary widely in severity and can affect many different parts of the body. Some of the most common symptoms include:
- Short stature
- Narrow and/or bell-shaped chest
- Abnormalities of the spine and ribs
- Extra fingers and/or toes (polydactyly)
- Abnormalities of the heart, kidneys, and other organs
Some infants with SRTD2 are stillborn or die shortly after birth, while others may survive into adulthood with significant physical and developmental challenges.
Diagnosis of SRTD2
Diagnosing SRTD2 can be challenging, as it is a rare disorder with a wide range of symptoms. Doctors may use a variety of tests and imaging studies to look for signs of SRTD2, including:
- X-rays and other imaging tests to evaluate bone and organ development
- Genetic testing to look for mutations in the IFT80 gene
- Physical exams to look for characteristic physical features
- Tests to evaluate heart and kidney function
Genetic testing is often the most definitive way to diagnose SRTD2, as it can identify specific mutations in the IFT80 gene that are associated with the disorder.
NGS Genetic Test Cost in India
The cost of NGS Genetic Testing for SRTD2 in India can vary depending on the laboratory and other factors. At DNA Labs India, the cost of NGS Genetic Testing for SRTD2 is INR 20,000. This test uses next-generation sequencing technology to analyze the entire IFT80 gene for mutations that are associated with SRTD2.
NGS Genetic Testing is a powerful tool for diagnosing rare genetic disorders like SRTD2, as it can identify mutations that may be missed by other types of genetic tests. This can help doctors make more accurate diagnoses and provide better treatment options for patients with SRTD2.
Conclusion
Short-rib thoracic dysplasia type 2 with or without polydactyly is a rare genetic disorder that can cause a range of physical and developmental abnormalities. Genetic testing, including NGS Genetic Testing, can be an important tool for diagnosing SRTD2 and providing appropriate care for affected individuals. If you or a loved one are experiencing symptoms of SRTD2, talk to your doctor about whether genetic testing may be appropriate.
For more information about NGS Genetic Testing for SRTD2 or other genetic disorders, contact DNA Labs India today.
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 IFT80 Gene Short-rib thoracic dysplasia type 2 with or without polydactyly NGS Genetic Test
| Test Name | IFT80 Gene Short-rib thoracic dysplasia type 2 with or without polydactyly 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 IFT80 Gene Short-rib thoracic dysplasia type 2 with or without polydactyly NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IFT80 Gene Short-rib thoracic dysplasia type 2 with or without polydactyly NGS Genetic Test gene IFT80 |
| Disease | Dysmorphology |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for IFT80 Gene Short-rib thoracic dysplasia type 2 with or without polydactyly NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IFT80 Gene Short-rib thoracic dysplasia type 2 with or without polydactyly NGS Genetic Test gene IFT80 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for IFT80 Gene Short-rib thoracic dysplasia type 2 with or without polydactyly 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.
