ZMPSTE24 Gene Mandibuloacral Dysplasia with Type B Lipodystrophy NGS Genetic Test
Mandibuloacral dysplasia with type B lipodystrophy is a rare genetic disorder that affects the bones, skin, and fat tissue. This disorder is caused by mutations in the ZMPSTE24 gene. The ZMPSTE24 gene provides instructions for making an enzyme that is essential for the normal processing of a protein called lamin A. Mutations in the ZMPSTE24 gene lead to the production of an abnormal form of lamin A, which accumulates in the cell nucleus and disrupts the normal functioning of the cell.
The symptoms of mandibuloacral dysplasia with type B lipodystrophy can vary widely. Some people may have only mild symptoms, while others may have severe symptoms that affect multiple organ systems. Common symptoms include:
- Delayed growth and development
- Abnormal bone development
- Thin, fragile skin
- Lack of subcutaneous fat
- Insulin resistance and diabetes
- Enlarged liver and spleen
Diagnosis of mandibuloacral dysplasia with type B lipodystrophy is based on a combination of clinical symptoms and genetic testing. The genetic testing involves sequencing the ZMPSTE24 gene to identify any mutations that may be causing the disorder. This can be done using a Next-Generation Sequencing (NGS) DNA test.
The NGS DNA test is a powerful tool for identifying genetic mutations. It uses cutting-edge technology to sequence large amounts of DNA quickly and accurately. The test can detect mutations in the ZMPSTE24 gene that may be missed by other types of genetic testing.
The cost of the NGS DNA test for mandibuloacral dysplasia with type B lipodystrophy in India is around INR 20,000. This cost may vary depending on the testing facility and any additional services that may be required.
Conclusion
Mandibuloacral dysplasia with type B lipodystrophy is a rare genetic disorder that can have a significant impact on the health and well-being of affected individuals. Early diagnosis is essential for proper management of the disorder. The NGS DNA test is a powerful tool for identifying mutations in the ZMPSTE24 gene that may be causing the disorder. The cost of the test in India is around INR 20,000. If you or a loved one is experiencing symptoms of mandibuloacral dysplasia with type B lipodystrophy, speak to a healthcare provider about the possibility of genetic testing.
| Test Name | ZMPSTE24 Gene Mandibuloacral dysplasia with type B lipodystrophy 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 ZMPSTE24 Gene Mandibuloacral dysplasia with type B lipodystrophy NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ZMPSTE24 Gene Mandibuloacral dysplasia with type B lipodystrophy NGS Genetic Test gene ZMPSTE24 |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for ZMPSTE24 Gene Mandibuloacral dysplasia with type B lipodystrophy NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ZMPSTE24 Gene Mandibuloacral dysplasia with type B lipodystrophy NGS Genetic Test gene ZMPSTE24 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ZMPSTE24 Gene Mandibuloacral dysplasia with type B lipodystrophy 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.
