ERCC2 Gene Xeroderma pigmentosum, group D NGS Genetic Test
Xeroderma pigmentosum, group D (XP-D) is a rare genetic disorder that is caused by mutations in the ERCC2 gene. ERCC2 is responsible for encoding a protein that is involved in repairing damaged DNA. When this gene is mutated, it can lead to a deficiency in DNA repair, which can result in a variety of symptoms.
Symptoms of Xeroderma pigmentosum, group D
The symptoms of XP-D can vary widely from person to person. Some common symptoms include:
- Increased sensitivity to sunlight
- Freckling and other pigmentation changes
- Development of skin cancers, including melanoma
- Eye problems, including cataracts and other vision problems
- Neurological problems, including developmental delays and hearing loss
Diagnosis of Xeroderma pigmentosum, group D
Diagnosis of XP-D can be challenging, as it is a rare disorder and the symptoms can be similar to those of other conditions. However, there are a few tests that can be performed to confirm a diagnosis, including:
- Skin biopsy to look for DNA damage
- Genetic testing to look for mutations in the ERCC2 gene
- Eye exams to check for vision problems
NGS Genetic Test for ERCC2 Gene Xeroderma pigmentosum, group D
NGS Genetic Test is a type of genetic testing that can be used to identify mutations in the ERCC2 gene that are associated with XP-D. This test uses next-generation sequencing (NGS) technology to analyze a person’s DNA and look for specific mutations.
The cost of NGS Genetic Test for ERCC2 Gene Xeroderma pigmentosum, group D in India is INR 20,000.
Conclusion
Xeroderma pigmentosum, group D is a rare genetic disorder that can cause a variety of symptoms, including increased sensitivity to sunlight, skin cancers, and neurological problems. Diagnosis of XP-D can be challenging, but genetic testing can be used to confirm a diagnosis and identify specific mutations in the ERCC2 gene. NGS Genetic Test for ERCC2 Gene Xeroderma pigmentosum, group D is a useful tool for diagnosing this disorder, and it is available in India for INR 20,000.
If you suspect that you or a loved one may have XP-D, it is important to seek medical attention as soon as possible. Early diagnosis and treatment can help to manage symptoms and improve quality of life.
For more information on Xeroderma pigmentosum, group D or NGS Genetic Test, contact DNA Labs India today!
Test Name | ERCC2 Gene Xeroderma pigmentosum, group D 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 ERCC2 Gene Xeroderma pigmentosum, group D NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC2 Gene Xeroderma pigmentosum, group D NGS Genetic Test gene ERCC2 |
Disease | Osteology Dermatology Immunology Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for ERCC2 Gene Xeroderma pigmentosum, group D NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC2 Gene Xeroderma pigmentosum, group D NGS Genetic Test gene ERCC2 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ERCC2 Gene Xeroderma pigmentosum, group D 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.