ERCC6 Gene De Sanctis-Cacchione Syndrome NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
ERCC6 Gene De Sanctis-Cacchione Syndrome is a rare genetic disorder that affects the development of the nervous system. It is caused by mutations in the ERCC6 gene, which provides instructions for making a protein that is important for DNA repair. The syndrome is named after two Italian doctors, De Sanctis and Cacchione, who first described the condition in the 1960s.
Symptoms of ERCC6 Gene De Sanctis-Cacchione Syndrome
The symptoms of ERCC6 Gene De Sanctis-Cacchione Syndrome can vary widely depending on the severity of the mutation. Some common symptoms include:
- Intellectual disability
- Seizures
- Microcephaly (small head size)
- Growth retardation
- Delayed development
- Abnormalities of the bones and joints
Diagnosis of ERCC6 Gene De Sanctis-Cacchione Syndrome
Diagnosis of ERCC6 Gene De Sanctis-Cacchione Syndrome can be done through genetic testing. Next-generation sequencing (NGS) is a powerful tool used to identify mutations in the ERCC6 gene. The test involves sequencing the entire gene to identify any changes or abnormalities that may be present.
Cost of ERCC6 Gene De Sanctis-Cacchione Syndrome NGS Genetic Test
The cost of ERCC6 Gene De Sanctis-Cacchione Syndrome NGS Genetic Test in India is approximately INR 20,000. The cost may vary depending on the testing center and the specific testing method used.
Conclusion
ERCC6 Gene De Sanctis-Cacchione Syndrome is a rare genetic disorder that affects the development of the nervous system. The syndrome can be diagnosed through genetic testing using next-generation sequencing. The cost of the test in India is approximately INR 20,000. If you suspect that you or a loved one may be affected by this syndrome, it is important to speak to a genetic counselor or healthcare provider for further information and guidance.
| Test Name | ERCC6 Gene De Sanctis-Cacchione 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 ERCC6 Gene De Sanctis-Cacchione syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC6 Gene De Sanctis-Cacchione syndrome NGS Genetic Test gene ERCC6 |
| Disease | Dysmorphology |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for ERCC6 Gene De Sanctis-Cacchione syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC6 Gene De Sanctis-Cacchione syndrome NGS Genetic Test gene ERCC6 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ERCC6 Gene De Sanctis-Cacchione 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.
