COL4A3 Gene Alport Syndrome: Symptoms, Diagnosis, and Genetic Testing Cost
Alport Syndrome is a rare genetic disorder that affects the kidneys, eyes, and ears. It is caused by mutations in the COL4A3, COL4A4, and COL4A5 genes, which encode for the type IV collagen protein. This protein is essential for the proper functioning of the basement membrane, which is a thin layer of tissue that separates the blood vessels from the surrounding tissues.
Symptoms of Alport Syndrome
The symptoms of Alport Syndrome vary depending on the severity of the disease. Some people may have no symptoms, while others may experience kidney failure, hearing loss, and vision problems. The most common symptoms of Alport Syndrome include:
- Blood in the urine
- Proteinuria (excessive protein in the urine)
- High blood pressure
- Swelling in the legs, ankles, feet, and face
- Hearing loss
- Blurred vision or vision loss
Diagnosis of Alport Syndrome
Alport Syndrome is diagnosed through a combination of medical history, physical examination, and laboratory tests. The following tests may be used to diagnose Alport Syndrome:
- Urinalysis to check for blood and protein in the urine
- Blood tests to check kidney function
- Hearing tests to check for hearing loss
- Eye exams to check for vision problems
- Genetic testing to identify mutations in the COL4A3, COL4A4, and COL4A5 genes
COL4A3 Gene Alport Syndrome and Autosomal Recessive NGS Genetic Test
The COL4A3 gene is one of the three genes associated with Alport Syndrome. Mutations in this gene can cause an autosomal recessive form of the disease. Autosomal recessive means that a person must inherit two copies of the mutated gene (one from each parent) to develop the disease.
NGS (Next Generation Sequencing) Genetic Test is a type of genetic testing that can identify mutations in the COL4A3 gene. This test uses advanced sequencing technology to analyze the DNA and identify any changes or mutations in the gene.
Cost of NGS Genetic Test for Alport Syndrome
The cost of NGS Genetic Test for Alport Syndrome in India can vary depending on the laboratory and the specific test being performed. On average, the cost of this test can range from INR 15,000 to INR 25,000. However, some labs may offer discounts or special pricing for certain patients or conditions. It is important to check with the laboratory for the most up-to-date pricing information.
Conclusion
Alport Syndrome is a rare genetic disorder that can affect the kidneys, eyes, and ears. It is caused by mutations in the COL4A3, COL4A4, and COL4A5 genes. NGS Genetic Testing can be used to identify mutations in the COL4A3 gene and diagnose the autosomal recessive form of the disease. The cost of this test can vary depending on the laboratory and the specific test being performed. If you suspect that you or a loved one may have Alport Syndrome, it is important to talk to a healthcare professional and consider genetic testing.
| Test Name | COL4A3 Gene Alport syndrome, autosomal recessive NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | General Physician |
| Pre-test Information | Clinical History of Patient who is going for COL4A3 Gene Alport syndrome, autosomal recessive NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL4A3 Gene Alport syndrome, autosomal recessive NGS Genetic Test gene COL4A3 |
| Disease | Hepatology Nephrology Endocrinology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for COL4A3 Gene Alport syndrome, autosomal recessive NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL4A3 Gene Alport syndrome, autosomal recessive NGS Genetic Test gene COL4A3 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for COL4A3 Gene Alport syndrome, 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.
