ATP6V0A2 Gene Cutis Laxa Type 2A: Symptoms, Diagnosis, and Genetic Testing Cost
ATP6V0A2 gene Cutis laxa type 2A is a rare genetic disorder that affects the connective tissues of the body. It is an autosomal recessive disorder, which means that a person must inherit two copies of the mutated gene – one from each parent – to develop the condition. Cutis laxa type 2A is caused by mutations in the ATP6V0A2 gene, which provides instructions for making a protein called V-ATPase. This protein is essential for the proper functioning of the body’s cells, particularly those that produce and maintain connective tissue.
Symptoms of ATP6V0A2 Gene Cutis Laxa Type 2A
The symptoms of Cutis laxa type 2A vary from person to person and can range from mild to severe. Some common symptoms include:
- Loose, sagging skin
- Delayed development
- Joint laxity
- Short stature
- Delayed speech
- Intellectual disability
Other symptoms may include respiratory problems, seizures, and heart defects. Because the symptoms of Cutis laxa type 2A are similar to those of other genetic disorders, it can be difficult to diagnose without genetic testing.
Diagnosis of ATP6V0A2 Gene Cutis Laxa Type 2A
A diagnosis of Cutis laxa type 2A is typically made through genetic testing. This involves analyzing a person’s DNA to identify mutations in the ATP6V0A2 gene. Genetic testing can be done through a variety of methods, including:
- Next-generation sequencing (NGS)
- Sanger sequencing
- Whole-exome sequencing
If a person is suspected of having Cutis laxa type 2A based on their symptoms, genetic testing can confirm the diagnosis. It can also be used to diagnose the condition in family members who may be at risk of inheriting the mutation.
Genetic Testing Cost for ATP6V0A2 Gene Cutis Laxa Type 2A
The cost of genetic testing for Cutis laxa type 2A can vary depending on the method used and the laboratory performing the test. On average, the cost of next-generation sequencing (NGS) genetic testing for ATP6V0A2 gene Cutis laxa type 2A in India is around INR 20,000.
Conclusion
ATP6V0A2 gene Cutis laxa type 2A is a rare genetic disorder that affects the connective tissues of the body. Symptoms can vary from person to person and can range from mild to severe. Genetic testing can confirm a diagnosis of Cutis laxa type 2A and can be used to diagnose the condition in family members who may be at risk of inheriting the mutation. The cost of genetic testing for ATP6V0A2 gene Cutis laxa type 2A in India is around INR 20,000.
If you or a family member are experiencing symptoms of Cutis laxa type 2A, it is important to speak with a healthcare provider about genetic testing. Early diagnosis and management of the condition can help improve outcomes and quality of life.
Mutations in the ATP6V0A2 gene have been associated with a genetic condition known as Cutis Laxa Type 2A, which is inherited in an autosomal recessive manner. Cutis laxa is a rare disorder characterized by loose, sagging skin and connective tissue abnormalities. Mutations in the ATP6V0A2 gene can lead to a deficiency of the V-type proton ATPase complex, which plays a role in maintaining the acidification of certain cellular compartments.
Genetic testing for mutations in the ATP6V0A2 gene can help diagnose Cutis Laxa Type 2A. This testing is typically performed using next-generation sequencing (NGS) technology, which analyzes the DNA sequence of the gene to identify any genetic variations that may be responsible for the condition. The results of the genetic test can provide important information for diagnosis, genetic counseling, and management of the condition.
If you suspect Cutis Laxa Type 2A or have concerns about a genetic condition, it’s recommended to consult with a medical geneticist or genetic counselor. They can help determine if genetic testing is appropriate, explain the testing process, and provide guidance on the implications of the results for the individual’s health and well-being.
| Test Name | ATP6V0A2 Gene Cutis laxa type 2A, autosomal recessive 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 Cutis laxa type 2A, autosomal recessive NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATP6V0A2 Gene Cutis laxa type 2A, autosomal recessive 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 Cutis laxa type 2A, autosomal recessive NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATP6V0A2 Gene Cutis laxa type 2A, autosomal recessive 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 Cutis laxa type 2A, autosomal recessive 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.
