MBTPS2 Gene Ichthyosis Follicularis, Atricia, and Photophobia Syndrome NGS Genetic Test
Ichthyosis Follicularis, Atricia, and Photophobia Syndrome (IFAP) is a rare genetic disorder that affects the skin, hair, and eyes. It is caused by mutations in the MBTPS2 gene, which provides instructions for making an enzyme that is involved in the processing of certain proteins.
IFAP is characterized by dry, scaly skin that is prone to infections, as well as hair loss and thickened, ridged nails. Affected individuals also have absent or underdeveloped ear canals, leading to hearing loss, and are sensitive to light, which can cause eye pain and discomfort.
Symptoms of IFAP
The symptoms of IFAP can vary widely from person to person, but typically include:
- Dry, scaly skin
- Hair loss
- Thickened, ridged nails
- Absent or underdeveloped ear canals
- Hearing loss
- Sensitivity to light
Diagnosis of IFAP
IFAP is typically diagnosed based on a combination of clinical symptoms and genetic testing. A skin biopsy may also be performed to examine the skin cells under a microscope.
Genetic testing for IFAP involves sequencing the MBTPS2 gene to identify any mutations that may be present. This can be done using Next Generation Sequencing (NGS) technology, which is a powerful tool for identifying genetic mutations quickly and accurately.
Cost of IFAP NGS Genetic Test
The cost of IFAP NGS Genetic Test in India is INR 20,000.
Conclusion
IFAP is a rare genetic disorder that can have a significant impact on a person’s quality of life. Early diagnosis and genetic testing are important for identifying the underlying cause of the disorder and providing appropriate treatment and management.
The IFAP NGS Genetic Test is a powerful tool for identifying mutations in the MBTPS2 gene quickly and accurately. If you or a loved one are experiencing symptoms of IFAP, it is important to speak with a healthcare professional and consider genetic testing to get an accurate diagnosis and appropriate treatment.
At DNA Labs India, we offer a range of genetic testing services, including the IFAP NGS Genetic Test. Contact us today to learn more about our services and how we can help you get the answers you need.
| Test Name | MBTPS2 Gene Ichthyosis follicularis, atricia, and photophobia syndrome 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 MBTPS2 Gene Ichthyosis follicularis, atricia, and photophobia syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MBTPS2 Gene Ichthyosis follicularis, atricia, and photophobia syndrome NGS Genetic Test gene MBTPS2 |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for MBTPS2 Gene Ichthyosis follicularis, atricia, and photophobia syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MBTPS2 Gene Ichthyosis follicularis, atricia, and photophobia syndrome NGS Genetic Test gene MBTPS2 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for MBTPS2 Gene Ichthyosis follicularis, atricia, and photophobia 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.
