MMP13 Gene Metaphyseal Anadysplasia Type 1 NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
Metaphyseal anadysplasia type 1 (MMA1) is a rare genetic disorder that affects the development of bones, particularly in the long bones of the arms and legs. MMA1 is caused by mutations in the MMP13 gene, which provides instructions for making an enzyme called matrix metallopeptidase 13. This enzyme is important for the breakdown and remodeling of bone tissue.
NGS (Next Generation Sequencing) Genetic Testing can be used to identify mutations in the MMP13 gene that cause MMA1. The cost of this test in India is typically around INR 20000.
Symptoms of MMA1
The symptoms of MMA1 can vary widely from person to person, even among members of the same family. Some common symptoms include:
- Short stature
- Bowed legs
- Widening of the long bones in the arms and legs
- Joint pain and stiffness
- Abnormal curvature of the spine
- Delayed motor development
These symptoms usually become apparent in early childhood, although they can sometimes be detected in utero during prenatal ultrasound examinations.
Diagnosis of MMA1
The diagnosis of MMA1 is typically made based on a combination of clinical features, radiographic findings, and genetic testing. X-rays of the affected bones can show characteristic changes, such as irregularity and thickening of the metaphyses (the wider parts of the bone near the joints). Genetic testing can confirm the presence of mutations in the MMP13 gene.
Conclusion
MMA1 is a rare genetic disorder that can have significant effects on a person’s skeletal development. NGS Genetic Testing can be used to identify mutations in the MMP13 gene that cause MMA1, with a cost of around INR 20000 in India. Early diagnosis and management of MMA1 can help to minimize complications and improve outcomes for affected individuals.
At DNA Labs India, we offer a range of genetic testing services, including NGS Genetic Testing for MMA1. Contact us today to learn more about our services and how we can help you.
Test Name | MMP13 Gene Metaphyseal anadysplasia type 1 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 MMP13 Gene Metaphyseal anadysplasia type 1 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MMP13 Gene Metaphyseal anadysplasia type 1 NGS Genetic Test gene MMP13 |
Disease | Dysmorphology |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for MMP13 Gene Metaphyseal anadysplasia type 1 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MMP13 Gene Metaphyseal anadysplasia type 1 NGS Genetic Test gene MMP13 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for MMP13 Gene Metaphyseal anadysplasia type 1 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.