ABCC6 Gene Pseudoxanthoma Elasticum NGS Genetic Test
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder that affects the eyes, skin, and cardiovascular system. It is caused by mutations in the ABCC6 gene. DNA Labs India offers an NGS Genetic Test to detect mutations in the ABCC6 gene.
Cost
The cost of the ABCC6 Gene Pseudoxanthoma Elasticum NGS Genetic Test at DNA Labs India is INR 20,000.
Symptoms
- Yellowish bumps on the skin (papules)
- Loose and sagging skin
- Retinal abnormalities
- Cardiovascular problems
It is important to note that not all individuals with PXE will display all of these symptoms. Some individuals may only have a few symptoms, while others may have many.
Diagnosis
The ABCC6 Gene Pseudoxanthoma Elasticum NGS Genetic Test offered by DNA Labs India can diagnose PXE by detecting mutations in the ABCC6 gene. This test is non-invasive and requires only a blood sample.
If you suspect that you or a loved one may have PXE, it is important to speak with a healthcare professional for proper diagnosis and treatment.
someone carries genetic variations associated with Pseudoxanthoma elasticum.
Clinical Presentation:
Individuals with PXE experience a range of symptoms, including yellowish bumps on the skin (pseudoxanthomas), vision problems due to changes in the retina, and cardiovascular complications such as calcification of blood vessels.
Genetic Testing:
Genetic testing for PXE involves analyzing the ABCC6 gene for variations that may impact the transport function of the MRP6 protein and contribute to the mineral deposits characteristic of the disorder.
Genetic Counseling:
Genetic counseling is recommended before and after genetic testing. A genetic counselor can explain the implications of the test results, discuss inheritance patterns, and provide information about potential health risks.
Clinical Management:
The management of PXE focuses on addressing symptoms and complications. This may include regular eye exams, monitoring of cardiovascular health, and managing skin changes. There is no specific cure for PXE, but management strategies can improve quality of life.
Rare Disorder:
Pseudoxanthoma elasticum is a rare condition caused by specific variations in the ABCC6 gene. Genetic testing may be challenging due to the rarity of the disorder and the specific variations involved.
Research and Clinical Use:
Genetic testing for PXE may be available in specialized genetics laboratories or research settings. It’s important to discuss the test’s availability and potential benefits with a dermatologist, ophthalmologist, cardiologist, healthcare provider, or genetic counselor.
If you suspect that you or a family member might have Pseudoxanthoma elasticum or are considering genetic testing for any reason, it’s recommended to consult specialists such as dermatologists, ophthalmologists, cardiologists, healthcare professionals, or medical genetic counselors. They can guide you through the testing process, interpret the results, and provide personalized recommendations based on your situation.
| Test Name | ABCC6 Gene Pseudoxanthoma elasticum NGS Genetic Test |
|---|---|
| Sample type | Blood |
| Test type | Dermatologist |
| Pre-test Information | Clinical History of Patient who is going for ABCC6 Gene Pseudoxanthoma elasticum NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ABCC6 Gene Pseudoxanthoma elasticum NGS Genetic Test gene ABCC6 |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for ABCC6 Gene Pseudoxanthoma elasticum NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ABCC6 Gene Pseudoxanthoma elasticum NGS Genetic Test gene ABCC6 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ABCC6 Gene Pseudoxanthoma elasticum 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.
