Short Description

NGS genetic DNA test detecets for variant and mutation detection in PRG4 gene for Camptodactyly-arthropathy-coxa vara-pericarditis syndrome

PreTest Information

Clinical History of Patient who is going for PRG4 Gene Camptodactyly-arthropathy-coxa vara-pericarditis syndrome NGS Genetic DNA 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 DNA Test gene PRG4

Detail Description

PRG4 Gene Camptodactyly-arthropathy-coxa vara-pericarditis syndrome NGS Genetic DNA 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 DNA 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.