ATP6V0A2 Gene Wrinkly Skin Syndrome NGS Genetic Test
Wrinkly skin syndrome (WSS) is a rare genetic disorder that affects the skin and connective tissues. It is caused by mutations in the ATP6V0A2 gene, which is responsible for encoding a protein that helps transport substances across cell membranes. The disorder is characterized by thick, wrinkled skin on the hands and feet, joint stiffness, and other connective tissue abnormalities.
Symptoms of Wrinkly Skin Syndrome
The most common symptom of WSS is thick, wrinkled skin on the hands and feet. This skin may also be dry and scaly. Other symptoms may include:
- Joint stiffness and limited range of motion
- Delayed growth and development
- Abnormal curvature of the spine (scoliosis)
- Abnormalities of the connective tissues, such as weak ligaments or tendons
Diagnosis of Wrinkly Skin Syndrome
Wrinkly skin syndrome is diagnosed through a combination of physical examination and genetic testing. A doctor will examine the patient’s skin and joints, and may order imaging tests such as X-rays or MRI scans to assess bone and connective tissue abnormalities.
A genetic test for the ATP6V0A2 gene mutation is also recommended. This test can confirm the diagnosis of WSS and help determine the type and severity of the mutation.
NGS Genetic Test for ATP6V0A2 Gene Wrinkly Skin Syndrome
Next-generation sequencing (NGS) is a powerful genetic testing technology that allows for the simultaneous analysis of multiple genes, including the ATP6V0A2 gene. NGS testing can identify mutations in the ATP6V0A2 gene that cause WSS, as well as other genetic disorders that may have similar symptoms.
The cost of an NGS Genetic Test for ATP6V0A2 gene Wrinkly Skin Syndrome in India is approximately INR 20,000.
Conclusion
Wrinkly skin syndrome is a rare genetic disorder that can cause significant physical and developmental challenges for affected individuals. Genetic testing, including NGS testing for the ATP6V0A2 gene mutation, can help diagnose the disorder and guide treatment decisions. If you or someone you know is experiencing symptoms of WSS, speak with your doctor about genetic testing options.
| Test Name | ATP6V0A2 Gene Wrinkly skin syndrome 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 ATP6V0A2 Gene Wrinkly skin syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATP6V0A2 Gene Wrinkly skin syndrome NGS Genetic Test gene ATP6V0A2 |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for ATP6V0A2 Gene Wrinkly skin syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATP6V0A2 Gene Wrinkly skin syndrome NGS Genetic Test gene ATP6V0A2 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ATP6V0A2 Gene Wrinkly skin 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.
