B3GALT6 Gene Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or without Fractures NGS Genetic Test
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures (SEMDJL1) is a rare genetic disorder that affects bone development. This disorder is caused by mutations in the B3GALT6 gene. The B3GALT6 gene provides instructions for making an enzyme that is involved in the production of proteoglycans, which are important components of cartilage and bone. Mutations in the B3GALT6 gene can disrupt the normal production of proteoglycans, leading to abnormal bone and cartilage development.
Symptoms of SEMDJL1
The symptoms of SEMDJL1 can vary widely among affected individuals. Some common symptoms of SEMDJL1 include:
- Short stature
- Abnormal curvature of the spine (scoliosis)
- Joint laxity (loose joints)
- Widening of the metaphyses (the wider part of a long bone near the growth plate)
- Fractures
- Delayed bone age
- Flat face with a short nose and a small chin
- Abnormal development of the hip joint
Diagnosis of SEMDJL1
SEMDJL1 is diagnosed through genetic testing. Next-generation sequencing (NGS) is a commonly used method for genetic testing. NGS can detect mutations in the B3GALT6 gene with a high degree of accuracy. If SEMDJL1 is suspected, a genetic counselor or healthcare provider can order a genetic test to confirm the diagnosis.
Cost of SEMDJL1 Genetic Test
The cost of SEMDJL1 Genetic Testing in India is approximately INR 20,000. This cost may vary depending on the testing laboratory and the specific tests ordered.
Conclusion
SEMDJL1 is a rare genetic disorder that affects bone development. It is caused by mutations in the B3GALT6 gene and can lead to a variety of symptoms, including short stature, joint laxity, and fractures. SEMDJL1 is diagnosed through genetic testing, which can be done using NGS technology. The cost of SEMDJL1 Genetic Testing in India is approximately INR 20,000. If SEMDJL1 is suspected, it is important to consult with a genetic counselor or healthcare provider to determine the best course of action.
For more information on genetic testing and DNA labs in India, please visit
DNA Labs India
.
The B3GALT6 gene is associated with a rare genetic disorder known as Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1 (SEMD-JL1). This condition is characterized by skeletal abnormalities affecting the spine, epiphyses (the ends of long bones), and joints, as well as joint hypermobility or laxity. Individuals with SEMD-JL1 may also experience fractures due to the weakened bone structure.
| Test Name | B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 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 B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures NGS Genetic Test gene B3GALT6 |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures NGS Genetic Test gene B3GALT6 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 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.
