FBN1 Gene Marfan Lipodystrophy Syndrome NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
Marfan lipodystrophy syndrome is a rare genetic disorder that affects the connective tissues in the body. It is caused by mutations in the FBN1 gene which provides instructions for making a protein called fibrillin-1. This protein helps to give strength and elasticity to the connective tissues in the body, including the bones, cartilage, tendons, and ligaments.
Marfan lipodystrophy syndrome can affect different parts of the body, including the heart, eyes, lungs, and skeleton. The severity of the symptoms can vary widely, even among people with the same genetic mutation. Some people may have mild symptoms, while others may have severe symptoms that can be life-threatening.
Symptoms of Marfan Lipodystrophy Syndrome
- Tall and thin body type
- Long arms, legs, and fingers
- Curvature of the spine
- Flat feet
- Loose joints and hypermobility
- Stretch marks on the skin that are not related to weight gain or loss
- Heart problems, such as aortic aneurysm or mitral valve prolapse
- Vision problems, such as nearsightedness, dislocated lenses, or early cataracts
- Lung problems, such as collapsed lung or emphysema
- Problems with the dura, the lining of the spinal cord and brain
Diagnosis of Marfan Lipodystrophy Syndrome
Marfan lipodystrophy syndrome is diagnosed based on the presence of certain physical features, as well as genetic testing. A doctor may perform a physical exam to check for characteristic signs of the syndrome, such as long limbs and fingers, a curved spine, or stretch marks on the skin. They may also order imaging tests, such as an echocardiogram or a CT scan, to check for heart or lung problems.
Genetic testing can confirm the diagnosis of Marfan lipodystrophy syndrome. At DNA Labs India, we offer NGS Genetic Testing for FBN1 gene mutations. This test can detect mutations in the FBN1 gene with high accuracy, allowing for an early and accurate diagnosis of Marfan lipodystrophy syndrome.
NGS Genetic Test Cost INR:20000
The NGS Genetic Test for FBN1 gene mutations is available at DNA Labs India for a cost of INR 20000. This test is performed using the latest Next Generation Sequencing (NGS) technology, which allows for fast and accurate detection of genetic mutations. The test is non-invasive and requires only a simple blood or saliva sample.
If you suspect that you or a family member may have Marfan lipodystrophy syndrome, it is important to seek medical advice and consider genetic testing. Early diagnosis and treatment can help to prevent or manage the complications associated with this rare genetic disorder.
Test Name | FBN1 Gene Marfan lipodystrophy syndrome NGS Genetic Test |
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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 FBN1 Gene Marfan lipodystrophy syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FBN1 Gene Marfan lipodystrophy syndrome NGS Genetic Test gene FBN1 |
Disease | Dysmorphology |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for FBN1 Gene Marfan lipodystrophy syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FBN1 Gene Marfan lipodystrophy syndrome NGS Genetic Test gene FBN1 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for FBN1 Gene Marfan lipodystrophy syndrome 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.