ERCC4 Gene XFE Progeroid Syndrome NGS Genetic Test: Symptoms, Diagnosis, and Cost
Progeroid syndromes are a group of rare genetic disorders that cause accelerated aging. XFE progeroid syndrome, also known as Cockayne syndrome type II, is one of the most severe forms of progeria, with a life expectancy of only a few years. It is caused by mutations in the ERCC4 gene, which is responsible for repairing damaged DNA.
Symptoms of XFE Progeroid Syndrome
XFE progeroid syndrome is characterized by a variety of symptoms that affect multiple organ systems. These include:
- Severe growth retardation
- Developmental delays
- Microcephaly (small head size)
- Premature aging
- Skin photosensitivity
- Eye abnormalities
- Hearing loss
- Neurological abnormalities
These symptoms typically appear in early childhood and progressively worsen over time, leading to a shortened life expectancy.
Diagnosis of XFE Progeroid Syndrome
XFE progeroid syndrome is diagnosed based on clinical features and genetic testing. A physical examination may reveal characteristic facial features, such as a small jaw and a beaked nose. Imaging studies may show brain atrophy and calcifications. Blood tests may reveal anemia and abnormal liver function. Genetic testing can confirm the diagnosis by identifying mutations in the ERCC4 gene.
NGS Genetic Test for XFE Progeroid Syndrome
Next-generation sequencing (NGS) is a powerful tool for identifying genetic mutations. It allows for the rapid and cost-effective analysis of large numbers of genes, making it an ideal method for diagnosing rare genetic disorders like XFE progeroid syndrome. DNA Labs India offers an NGS Genetic Test for XFE progeroid syndrome that can detect mutations in the ERCC4 gene with high accuracy.
Cost of XFE Progeroid Syndrome NGS Genetic Test
The cost of the XFE progeroid syndrome NGS Genetic Test is INR 20,000. This includes the cost of sample collection, DNA sequencing, and interpretation of results. The test can be performed using a blood sample or a saliva sample, depending on the patient’s preference.
Conclusion
XFE progeroid syndrome is a rare and devastating genetic disorder that causes premature aging and a shortened life expectancy. Early diagnosis is crucial for managing symptoms and improving quality of life. DNA Labs India offers an NGS Genetic Test for XFE progeroid syndrome that is accurate, reliable, and affordable. If you suspect that you or a loved one may have XFE progeroid syndrome, talk to your doctor about genetic testing.
For more information about the XFE progeroid syndrome NGS Genetic Test, contact DNA Labs India today.
Test Name | ERCC4 Gene XFE progeroid syndrome NGS Genetic Test |
---|---|
Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
Test type | Pediatrics |
Pre-test Information | Clinical History of Patient who is going for ERCC4 Gene XFE progeroid syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC4 Gene XFE progeroid syndrome NGS Genetic Test gene ERCC4 |
Disease | Dysmorphology |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for ERCC4 Gene XFE progeroid syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC4 Gene XFE progeroid syndrome NGS Genetic Test gene ERCC4 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ERCC4 Gene XFE progeroid 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.