EFEMP2 Gene Cutis Laxa Type 1B: Symptoms, Diagnosis, and NGS Genetic Test Cost INR 20,000
EFEMP2 Gene Cutis Laxa Type 1B is a rare genetic disorder that affects the connective tissue in the body. This disorder is caused by mutations in the EFEMP2 gene, which provides instructions for making a protein called fibulin-4. Fibulin-4 is important for the elasticity and strength of the connective tissue. When mutations occur in the EFEMP2 gene, it leads to the production of a non-functional fibulin-4 protein, which causes the connective tissue to become loose and saggy. This results in a range of symptoms, including:
- Loose, saggy skin
- Wrinkles on the face and body
- Poor wound healing
- Joint problems
- Respiratory problems
- Eye problems
EFEMP2 Gene Cutis Laxa Type 1B is an autosomal recessive disorder, which means that a person must inherit two copies of the mutated EFEMP2 gene (one from each parent) to develop the disorder. If both parents carry one copy of the mutated gene, there is a 25% chance with each pregnancy that their child will inherit two copies and develop the disorder.
Diagnosis
Diagnosing EFEMP2 Gene Cutis Laxa Type 1B can be challenging, as the symptoms can be similar to other connective tissue disorders. A clinical examination and a family history can provide clues to the diagnosis. Genetic testing is necessary to confirm the diagnosis. Next-Generation Sequencing (NGS) Genetic Test is the most reliable method of genetic testing, as it can identify mutations in the EFEMP2 gene with high accuracy. The cost of NGS Genetic Test for EFEMP2 Gene Cutis Laxa Type 1B in India is INR 20,000.
Treatment
There is currently no cure for EFEMP2 Gene Cutis Laxa Type 1B, and treatment is focused on managing the symptoms. Treatment options may include:
- Surgery to remove excess skin
- Physical therapy to improve joint mobility
- Respiratory support, such as oxygen therapy
- Eye exams and treatment for vision problems
- Pain management
Conclusion
EFEMP2 Gene Cutis Laxa Type 1B is a rare genetic disorder that affects the connective tissue in the body. It can cause a range of symptoms, including loose and saggy skin, poor wound healing, and respiratory problems. Diagnosis is confirmed through genetic testing, and treatment is focused on managing the symptoms. NGS Genetic Test is the most reliable method of genetic testing, and the cost in India is INR 20,000.
| Test Name | EFEMP2 Gene Cutis laxa type 1B, autosomal recessive 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 EFEMP2 Gene Cutis laxa type 1B, autosomal recessive NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EFEMP2 Gene Cutis laxa type 1B, autosomal recessive NGS Genetic Test gene EFEMP2 |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for EFEMP2 Gene Cutis laxa type 1B, autosomal recessive NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EFEMP2 Gene Cutis laxa type 1B, autosomal recessive NGS Genetic Test gene EFEMP2 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for EFEMP2 Gene Cutis laxa type 1B, autosomal recessive 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.
