PRG4 Gene Camptodactyly-arthropathy-coxa vara-pericarditis syndrome NGS Genetic Test: Symptoms, Diagnosis and Cost
PRG4 Gene Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, also known as CACP syndrome, is a rare genetic disorder that affects multiple parts of the body including joints, heart, and eyes. It is caused by mutations in the PRG4 gene which provides instructions for making a protein called lubricin, which helps in the lubrication of joints, tendons, and other tissues.
The symptoms of CACP syndrome may vary from person to person, but some of the common symptoms include:
- Stiffness and swelling in joints
- Progressive joint contractures, especially in fingers
- Short stature
- Abnormal curvature of the hip bone (coxa vara)
- Pericarditis (inflammation of the outer lining of the heart)
- Eye abnormalities, such as cataracts and glaucoma
Diagnosis of CACP syndrome is typically done through a combination of clinical evaluation, family history, and genetic testing. A genetic test called Next Generation Sequencing (NGS) can be used to identify mutations in the PRG4 gene, which confirms the diagnosis of CACP syndrome.
The cost of the PRG4 Gene Camptodactyly-arthropathy-coxa vara-pericarditis syndrome NGS Genetic Test in India is around INR 20,000. This test is performed on a blood or saliva sample and is usually recommended for individuals with symptoms of CACP syndrome or those with a family history of the condition.
Early diagnosis of CACP syndrome can help in the management of symptoms and reduce the risk of complications. Treatment may involve a combination of medications, physical therapy, and surgery in some cases.
In conclusion, CACP syndrome is a rare genetic disorder that affects multiple parts of the body and is caused by mutations in the PRG4 gene. Next Generation Sequencing (NGS) genetic testing can help in the diagnosis of CACP syndrome, and the cost of this test is around INR 20,000 in India. Early diagnosis and management can help in improving the quality of life for individuals with CACP syndrome.
Test Name | PRG4 Gene Camptodactyly-arthropathy-coxa vara-pericarditis syndrome NGS Genetic Test |
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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 PRG4 Gene Camptodactyly-arthropathy-coxa vara-pericarditis syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PRG4 Gene Camptodactyly-arthropathy-coxa vara-pericarditis syndrome NGS Genetic Test gene PRG4 |
Disease | Dysmorphology |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for PRG4 Gene Camptodactyly-arthropathy-coxa vara-pericarditis syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PRG4 Gene Camptodactyly-arthropathy-coxa vara-pericarditis syndrome NGS Genetic Test gene PRG4 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PRG4 Gene Camptodactyly-arthropathy-coxa vara-pericarditis 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.