NIPAL4 Gene Ichthyosiform Erythroderma, Congenital, Nonbullous Type 1 NGS Genetic Test
Ichthyosiform erythroderma is a group of skin disorders characterized by dry, scaly, and thickened skin. It is caused by genetic mutations that affect the development of the skin. One type of ichthyosiform erythroderma is congenital nonbullous ichthyosiform erythroderma type 1 (CIE type 1), which is caused by mutations in the NIPAL4 gene.
Symptoms
CIE type 1 is present at birth and affects the entire body. Infants with CIE type 1 have red, scaly, and thickened skin that may crack and bleed. The skin may have a “fish scale” appearance and is often itchy. Other symptoms may include:
- Overgrowth of skin on the palms and soles
- Abnormally shaped fingernails and toenails
- Increased susceptibility to infections
- Hair loss
- Eye problems such as cataracts or inflammation of the eye
Diagnosis
CIE type 1 is diagnosed through a physical examination and genetic testing. A skin biopsy may also be performed to confirm the diagnosis. Genetic testing involves analyzing a sample of DNA to look for mutations in the NIPAL4 gene.
NGS Genetic Test
Next-generation sequencing (NGS) Genetic Testing is a type of genetic testing that can analyze multiple genes at once. This type of testing can be useful in diagnosing genetic disorders like CIE type 1 that are caused by mutations in specific genes.
Cost
The cost of NGS Genetic Testing for CIE type 1 in India is approximately INR 20,000.
Conclusion
CIE type 1 is a rare genetic disorder that causes dry, scaly, and thickened skin. It is caused by mutations in the NIPAL4 gene. Genetic testing, including NGS Genetic Testing, can be used to diagnose CIE type 1. The cost of NGS Genetic Testing for CIE type 1 in India is approximately INR 20,000.
If you suspect that you or a loved one may have CIE type 1, it is important to speak with a healthcare professional for a proper diagnosis and treatment plan.
For more information about genetic testing for CIE type 1 or other genetic disorders, contact DNA Labs India.
| Test Name | NIPAL4 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 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 NIPAL4 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NIPAL4 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 NGS Genetic Test gene NIPAL4 |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for NIPAL4 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NIPAL4 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 NGS Genetic Test gene NIPAL4 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for NIPAL4 Gene Ichthyosiform erythroderma, congenital, nonbullous 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.
