ATP6V1B1 Gene Renal Tubular Acidosis with Deafness
What is ATP6V1B1 Gene Renal Tubular Acidosis with Deafness?
ATP6V1B1 Gene Renal Tubular Acidosis with Deafness is a rare genetic disorder that affects the kidneys and ears. It is caused by a mutation in the ATP6V1B1 gene, which provides instructions for making a protein that helps maintain the balance of acid in the kidneys. This imbalance can lead to kidney damage and hearing loss.
What are the Symptoms of ATP6V1B1 Gene Renal Tubular Acidosis with Deafness?
The symptoms of ATP6V1B1 Gene Renal Tubular Acidosis with Deafness can vary from person to person, but typically include:
- Kidney problems, such as kidney stones, frequent urination, and blood in the urine
- Hearing loss, usually starting in childhood and getting worse over time
- Low potassium levels in the blood
- Acidosis, which is a buildup of acid in the blood
- Growth retardation
- Delayed puberty
How is ATP6V1B1 Gene Renal Tubular Acidosis with Deafness Diagnosed?
ATP6V1B1 Gene Renal Tubular Acidosis with Deafness is diagnosed through a combination of medical history, physical examination, and genetic testing. Blood and urine tests can also help diagnose the condition.
NGS Genetic Test Cost for ATP6V1B1 Gene Renal Tubular Acidosis with Deafness at DNA Labs India
DNA Labs India offers NGS Genetic Testing for ATP6V1B1 Gene Renal Tubular Acidosis with Deafness at a cost of INR 20000. This test can help diagnose the condition and identify carriers of the gene mutation.
Mutations in the ATP6V1B1 gene are associated with a rare genetic disorder known as renal tubular acidosis with deafness (RTA-Deafness syndrome). This condition is characterized by the kidneys’ inability to properly regulate acid-base balance, leading to metabolic acidosis, and sensorineural hearing loss.
Genetic testing for mutations in the ATP6V1B1 gene can be used to confirm a diagnosis of RTA-Deafness syndrome. This testing is typically performed using next-generation sequencing (NGS) technology, which allows for the analysis of the DNA sequence of the gene to identify any genetic variations that may be causing the disorder. Detecting mutations in the ATP6V1B1 gene can help clinicians understand the underlying genetic cause of the patient’s symptoms and tailor treatment accordingly.
Individuals with RTA-Deafness syndrome may require ongoing medical management to address the acid-base imbalance and hearing loss. If you suspect that you or someone you know may have RTA-Deafness syndrome or if there are concerns about a genetic condition, it’s important to consult with a healthcare professional, such as a nephrologist or medical geneticist. They can guide you through the diagnostic process, recommend appropriate genetic testing, and provide information about treatment options and management strategies.
| Test Name | ATP6V1B1 Gene Renal tubular acidosis with deafness 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 ATP6V1B1 Gene Renal tubular acidosis with deafness NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATP6V1B1 Gene Renal tubular acidosis with deafness NGS Genetic Test gene ATP6V1B1 |
| Disease | Hepatology Nephrology Endocrinology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for ATP6V1B1 Gene Renal tubular acidosis with deafness NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATP6V1B1 Gene Renal tubular acidosis with deafness NGS Genetic Test gene ATP6V1B1 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ATP6V1B1 Gene Renal tubular acidosis with deafness 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.
