COL4A4 Gene Alport Syndrome: Symptoms, Diagnosis, and Cost of Autosomal Recessive NGS Genetic Test
Alport Syndrome is a rare genetic disorder that affects the kidneys, ears, and eyes. It is caused by mutations in the COL4A3, COL4A4, and COL4A5 genes. In this blog, we will focus on the COL4A4 gene and its role in Alport Syndrome. We will also discuss the symptoms, diagnosis, and cost of autosomal recessive NGS Genetic Test for Alport Syndrome.
The Role of the COL4A4 Gene in Alport Syndrome
The COL4A4 gene provides instructions for making a protein called type IV collagen alpha-4 chain. This protein is a component of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Basement membranes play a critical role in the filtration function of the kidneys, and mutations in the COL4A4 gene can lead to the development of Alport Syndrome.
Symptoms of Alport Syndrome
The symptoms of Alport Syndrome can vary widely, even among members of the same family. The most common symptoms include:
- Blood in the urine
- Protein in the urine
- Progressive loss of kidney function
- Hearing loss
- Vision problems
Other symptoms may include high blood pressure, swelling in the legs and ankles, and fatigue.
Diagnosis of Alport Syndrome
Alport Syndrome is usually diagnosed based on a combination of symptoms, family history, and laboratory tests. These tests may include:
- Urinalysis
- Blood tests
- Kidney biopsy
- Hearing tests
- Eye exams
- Genetic testing
Genetic testing can confirm a diagnosis of Alport Syndrome and identify the specific genetic mutation responsible for the disorder.
Cost of Autosomal Recessive NGS Genetic Test for Alport Syndrome
The cost of autosomal recessive NGS Genetic Test for Alport Syndrome in India is typically around INR 20,000. This test uses next-generation sequencing (NGS) technology to analyze the entire coding region of the COL4A4 gene and identify any mutations that may be responsible for Alport Syndrome.
Conclusion
Alport Syndrome is a rare genetic disorder that can cause kidney failure, hearing loss, and vision problems. Mutations in the COL4A4 gene are one of the main causes of Alport Syndrome. Diagnosis of Alport Syndrome typically involves a combination of symptoms, family history, and laboratory tests, including genetic testing. The cost of autosomal recessive NGS Genetic Test for Alport Syndrome in India is approximately INR 20,000.
If you are experiencing symptoms of Alport Syndrome or have a family history of the disorder, it is important to speak with a genetic counselor or medical professional to determine the best course of action.
| Test Name | COL4A4 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 COL4A4 Gene Alport syndrome, autosomal recessive NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL4A4 Gene Alport syndrome, autosomal recessive NGS Genetic Test gene COL4A4 |
| Disease | Hepatology Nephrology Endocrinology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for COL4A4 Gene Alport syndrome, autosomal recessive NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL4A4 Gene Alport syndrome, autosomal recessive NGS Genetic Test gene COL4A4 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for COL4A4 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.
