GDF5 Gene Brachydactyly type A1C NGS Genetic Test
Brachydactyly type A1C is a rare genetic disorder characterized by shortened fingers and toes. It is caused by mutations in the GDF5 gene, which provides instructions for making a protein that is involved in the development and maintenance of bones and joints. This disorder is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene to develop the condition.
Symptoms of Brachydactyly type A1C
The main symptom of Brachydactyly type A1C is shortened fingers and toes. The affected digits may be stubby or misshapen, and they may have an unusual curvature. In some cases, the nails on the affected digits may also be abnormally shaped or missing.
Other symptoms of Brachydactyly type A1C may include:
- Joint pain or stiffness
- Abnormal bone growth
- Delayed bone age
- Short stature
- Cleft lip or palate
Diagnosis of Brachydactyly type A1C
Brachydactyly type A1C is typically diagnosed based on a physical examination and a review of the patient’s medical history. Genetic testing may also be used to confirm the diagnosis and identify the specific mutation in the GDF5 gene that is causing the condition.
GDF5 Gene Brachydactyly type A1C NGS Genetic Test
The GDF5 Gene Brachydactyly type A1C NGS Genetic Test is a genetic test that can identify mutations in the GDF5 gene that are associated with Brachydactyly type A1C. This test uses next-generation sequencing (NGS) technology to analyze the patient’s DNA and identify any mutations in the GDF5 gene.
Cost of GDF5 Gene Brachydactyly type A1C NGS Genetic Test
The cost of the GDF5 Gene Brachydactyly type A1C NGS Genetic Test in India is INR 20,000.
Conclusion
Brachydactyly type A1C is a rare genetic disorder that can cause shortened fingers and toes. It is caused by mutations in the GDF5 gene, and it is inherited in an autosomal dominant pattern. The GDF5 Gene Brachydactyly type A1C NGS Genetic Test is a genetic test that can identify mutations in the GDF5 gene that are associated with this condition. If you or a loved one is experiencing symptoms of Brachydactyly type A1C, talk to your doctor about getting tested.
| Test Name | GDF5 Gene Brachydactyly type A1C 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 GDF5 Gene Brachydactyly type A1C NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GDF5 Gene Brachydactyly type A1C NGS Genetic Test gene GDF5 |
| Disease | Dysmorphology |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for GDF5 Gene Brachydactyly type A1C NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GDF5 Gene Brachydactyly type A1C NGS Genetic Test gene GDF5 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for GDF5 Gene Brachydactyly type A1C 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.
