PNPLA1 Gene Ichthyosis Congenital: Symptoms, Diagnosis and Genetic Testing
Ichthyosis congenital is a rare genetic disorder that affects the skin. It is characterized by dry, scaly, and thickened skin that can be itchy and painful. One form of ichthyosis congenital is caused by mutations in the PNPLA1 gene. This type of ichthyosis is inherited in an autosomal recessive manner, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
Symptoms of PNPLA1 Gene Ichthyosis Congenital
The symptoms of PNPLA1 gene ichthyosis congenital can vary from person to person and can range from mild to severe. Some common symptoms of this condition include:
- Dry, scaly skin
- Thickened skin
- Itching and pain
- Cracked skin
- Redness and inflammation
- Difficulty sweating
- Hair loss
Diagnosis of PNPLA1 Gene Ichthyosis Congenital
The diagnosis of PNPLA1 gene ichthyosis congenital is usually based on a physical examination of the skin and a review of the patient’s medical history. In some cases, a skin biopsy may be performed to confirm the diagnosis. Genetic testing can also be used to confirm a diagnosis of PNPLA1 gene ichthyosis congenital.
PNPLA1 Related NGS Genetic Test
PNPLA1 related NGS Genetic Testing is a type of genetic test that can be used to identify mutations in the PNPLA1 gene. This test can be used to confirm a diagnosis of PNPLA1 gene ichthyosis congenital or to determine if a person is a carrier of the condition.
The cost of PNPLA1 related NGS Genetic Testing in India is approximately INR 20,000.
Conclusion
PNPLA1 gene ichthyosis congenital is a rare genetic disorder that affects the skin. It is inherited in an autosomal recessive manner and can cause dry, scaly, and thickened skin, as well as other symptoms. Diagnosis is usually based on a physical examination of the skin and genetic testing can be used to confirm a diagnosis. PNPLA1 related NGS Genetic Testing is available in India at a cost of approximately INR 20,000.
If you or someone you know is experiencing symptoms of ichthyosis congenital, it is important to speak with a healthcare professional for proper diagnosis and treatment.
| Test Name | PNPLA1 Gene Ichthyosis congenital, autosomal recessive, PNPLA1 related 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 PNPLA1 Gene Ichthyosis congenital, autosomal recessive, PNPLA1 related NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PNPLA1 Gene Ichthyosis congenital, autosomal recessive, PNPLA1 related NGS Genetic Test gene PNPLA1 |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for PNPLA1 Gene Ichthyosis congenital, autosomal recessive, PNPLA1 related NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PNPLA1 Gene Ichthyosis congenital, autosomal recessive, PNPLA1 related NGS Genetic Test gene PNPLA1 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PNPLA1 Gene Ichthyosis congenital, autosomal recessive, PNPLA1 related 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.
