PAX2 Gene Papillorenal Syndrome NGS Genetic Test – Symptoms, Diagnosis, and Cost
Papillorenal syndrome, also known as renal coloboma syndrome, is a rare genetic disorder that affects the development of the kidneys and the optic nerve. It is caused by mutations in the PAX2 gene, which is responsible for the formation of the kidneys and the eyes during embryonic development. Individuals with papillorenal syndrome may have abnormal kidney function and vision problems.
Symptoms
The symptoms of papillorenal syndrome can vary from person to person, but they typically include:
- Abnormal kidney function
- Vision problems, including cataracts, glaucoma, and retinal abnormalities
- Small or absent optic nerves
- Abnormalities in the shape or size of the kidneys, including cysts and malformations
- High blood pressure
- Frequent urinary tract infections
Diagnosis
Papillorenal syndrome is diagnosed through a combination of physical examination, medical history, and genetic testing. A doctor may perform a comprehensive eye exam, as well as imaging tests to evaluate the kidneys. Genetic testing can confirm the presence of a mutation in the PAX2 gene.
NGS Genetic Test
Next-generation sequencing (NGS) is a cutting-edge technology that allows for the rapid sequencing of large amounts of DNA. This technology is used to identify mutations in the PAX2 gene associated with papillorenal syndrome. The NGS Genetic Test is a non-invasive procedure that involves collecting a sample of blood or saliva from the patient. The sample is then analyzed in a laboratory to detect the presence of mutations in the PAX2 gene.
Cost
The cost of the NGS Genetic Test for papillorenal syndrome in India is approximately INR 20,000. The cost may vary depending on the laboratory and the specific tests performed.
Conclusion
Papillorenal syndrome is a rare genetic disorder that can cause abnormalities in the kidneys and vision problems. The PAX2 gene NGS Genetic Test is a non-invasive procedure that can accurately diagnose the presence of mutations in the PAX2 gene associated with papillorenal syndrome. The cost of the test in India is approximately INR 20,000, and it is important for individuals with a family history of the disorder or symptoms of the disorder to consider genetic testing for early diagnosis and treatment.
At DNA Labs India, we offer NGS Genetic Testing for a variety of genetic disorders, including papillorenal syndrome. Our team of experts uses the latest technology and techniques to provide accurate and reliable results to our clients. If you have any questions about papillorenal syndrome or genetic testing, please don’t hesitate to contact us.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for PAX2 Gene Papillorenal syndrome NGS Genetic Test
| Test Name | PAX2 Gene Papillorenal 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 PAX2 Gene Papillorenal syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PAX2 Gene Papillorenal syndrome NGS Genetic Test gene PAX2 |
| Disease | Dysmorphology |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for PAX2 Gene Papillorenal syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PAX2 Gene Papillorenal syndrome NGS Genetic Test gene PAX2 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PAX2 Gene Papillorenal 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.
