CTNS Gene Cystinosis: Symptoms, Diagnosis, and NGS Genetic Test Cost in India
Cystinosis is a rare genetic disorder that affects the body’s ability to remove cystine, an amino acid, from cells. This buildup of cystine can cause damage to various organs, including the kidneys, eyes, muscles, and brain. Cystinosis is caused by mutations in the CTNS gene, which provides instructions for making a protein that transports cystine out of cells. When this protein is not functioning correctly, cystine accumulates and causes damage.
Symptoms of Cystinosis
The symptoms of cystinosis can vary depending on the age at which the condition presents itself. In infants, symptoms usually appear within the first year of life and may include:
- Frequent urination
- Excessive thirst
- Dehydration
- Poor weight gain
- Delayed growth
- Constipation
In older children and adults, symptoms may include:
- Photophobia (sensitivity to light)
- Blurred vision
- Corneal crystals
- Muscle weakness
- Hypothyroidism
- Diabetes
- Difficulty swallowing
- Developmental delays
Diagnosis of Cystinosis
Cystinosis can be diagnosed through a variety of tests, including:
- Urinalysis to detect high levels of cystine
- Blood tests to measure cystine levels
- Eye exams to detect corneal crystals
- Genetic testing to detect mutations in the CTNS gene
NGS Genetic Test Cost for CTNS Gene Cystinosis in India
Next-generation sequencing (NGS) is a powerful tool for detecting genetic mutations associated with cystinosis. NGS allows for the simultaneous analysis of multiple genes, including the CTNS gene. The cost of NGS Genetic Testing for CTNS gene cystinosis in India typically ranges from INR 20,000 to INR 30,000.
Conclusion
Cystinosis is a rare genetic disorder that can cause a range of symptoms, including kidney damage, vision problems, and developmental delays. Early diagnosis and treatment are essential for managing the condition and preventing complications. NGS Genetic Testing can be a valuable tool for detecting mutations in the CTNS gene and diagnosing cystinosis. If you suspect that you or a loved one may have cystinosis, speak with a genetic counselor or healthcare provider to discuss testing options.
At DNA Labs India, we offer a range of genetic testing services, including NGS Genetic Testing for CTNS gene cystinosis. Contact us today to learn more about our services and how we can help you.
Test Name | CTNS Gene Cystinosis, nephropathic 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 CTNS Gene Cystinosis, nephropathic NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Cystinosis, nephropathic |
Disease | Metabolic Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for CTNS Gene Cystinosis, nephropathic NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Cystinosis, nephropathic |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for CTNS Gene Cystinosis, nephropathic 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.