ABCA12 Gene Ichthyosis Congenital: Symptoms, Diagnosis, and NGS Genetic Test Cost
Ichthyosis congenital is a group of genetic skin disorders that result in dry, scaly, and thickened skin. One type of ichthyosis congenital is caused by mutations in the ABCA12 gene, which is responsible for producing a protein that helps to build the skin’s outermost layer. When this gene is mutated, it can lead to a severe form of ichthyosis called Harlequin fetus.
Symptoms of Harlequin Fetus
The symptoms of Harlequin fetus are typically present at birth and can include:
- Thickened, scaly skin that is separated by deep cracks
- Red, swollen skin that may bleed
- Bulging eyes
- Everted lips and eyelids
- Abnormally shaped ears
- Limited mobility of the limbs due to thickened skin
Harlequin fetus is a rare and life-threatening condition that requires immediate medical attention.
Diagnosis of ABCA12 Gene Ichthyosis Congenital
Diagnosis of ABCA12 gene ichthyosis congenital is typically done through a physical examination of the skin and genetic testing. Genetic testing can confirm the presence of mutations in the ABCA12 gene, which is responsible for producing the protein that helps to build the skin’s outermost layer.
NGS Genetic Test Cost
The cost of NGS Genetic Testing for ABCA12 gene ichthyosis congenital can vary depending on the laboratory and the specific tests performed. At DNA Labs India, the cost of NGS Genetic Testing for ABCA12 gene ichthyosis congenital is INR 20,000.
Conclusion
ABCA12 gene ichthyosis congenital is a rare and severe form of ichthyosis that can be diagnosed through a physical examination of the skin and genetic testing. NGS Genetic Testing can confirm the presence of mutations in the ABCA12 gene, and the cost of this testing at DNA Labs India is INR 20,000. If you or a loved one is experiencing symptoms of Harlequin fetus, it is important to seek immediate medical attention.
For more information on ABCA12 gene ichthyosis congenital and NGS Genetic Testing, please contact DNA Labs India.
| Test Name | ABCA12 Gene Ichthyosis congenital, Harlequin fetus type NGS Genetic Test |
|---|---|
| Sample type | Blood |
| Test type | Dermatologist |
| Pre-test Information | Clinical History of Patient who is going for ABCA12 Gene Ichthyosis congenital, Harlequin fetus type NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ABCA12 Gene Ichthyosis congenital, Harlequin fetus type NGS Genetic Test gene ABCA12 |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for ABCA12 Gene Ichthyosis congenital, Harlequin fetus type NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ABCA12 Gene Ichthyosis congenital, Harlequin fetus type NGS Genetic Test gene ABCA12 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ABCA12 Gene Ichthyosis congenital, Harlequin fetus type 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.
