CHST3 Gene Spondyloepiphyseal dysplasia with congenital joint dislocations NGS Genetic Test cost INR:20000 symptoms diagnosis
Spondyloepiphyseal dysplasia with congenital joint dislocations is a rare genetic disorder that affects the bones and joints. This disorder is caused by mutations in the CHST3 gene, which provides instructions for making an enzyme called chondroitin 6-O-sulfotransferase-1. This enzyme is involved in the production of a type of cartilage called hyaline cartilage, which is found in the joints and the growth plates of the bones.
Spondyloepiphyseal dysplasia with congenital joint dislocations can cause a range of symptoms, including:
- Short stature
- Joint pain and stiffness
- Joint dislocations
- Abnormal curvature of the spine
- Delayed motor development
- Abnormal gait
- Flat feet
- Eye problems
The symptoms of this disorder can vary widely, even among members of the same family who have the same genetic mutation. Some people with spondyloepiphyseal dysplasia with congenital joint dislocations may have only mild symptoms, while others may have severe symptoms that affect their daily lives.
To diagnose spondyloepiphyseal dysplasia with congenital joint dislocations, doctors may use a variety of tests, including:
- X-rays
- Magnetic resonance imaging (MRI)
- Genetic testing
Genetic testing is the most reliable way to diagnose spondyloepiphyseal dysplasia with congenital joint dislocations. Specifically, a type of genetic testing called next-generation sequencing (NGS) can be used to identify mutations in the CHST3 gene. This test analyzes the DNA in a person’s blood or other tissue to look for changes in the CHST3 gene.
The cost of an NGS Genetic Test for spondyloepiphyseal dysplasia with congenital joint dislocations in India is typically around INR 20,000. This cost may vary depending on the specific laboratory or testing facility that is used.
If you or a loved one is experiencing symptoms of spondyloepiphyseal dysplasia with congenital joint dislocations, it is important to seek medical attention. A healthcare professional can evaluate your symptoms and recommend appropriate testing or treatment options.
Overall, spondyloepiphyseal dysplasia with congenital joint dislocations is a rare but serious genetic disorder that can cause a range of symptoms. Genetic testing using next-generation sequencing can help diagnose this disorder, and the cost of this test in India is typically around INR 20,000.
Test Name | CHST3 Gene Spondyloepiphyseal dysplasia with congenital joint dislocations NGS Genetic Test |
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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 CHST3 Gene Spondyloepiphyseal dysplasia with congenital joint dislocations NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CHST3 Gene Spondyloepiphyseal dysplasia with congenital joint dislocations NGS Genetic Test gene CHST3 |
Disease | Osteology Dermatology Immunology Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for CHST3 Gene Spondyloepiphyseal dysplasia with congenital joint dislocations NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CHST3 Gene Spondyloepiphyseal dysplasia with congenital joint dislocations NGS Genetic Test gene CHST3 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for CHST3 Gene Spondyloepiphyseal dysplasia with congenital joint dislocations 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.