Short Description

NGS genetic DNA test detecets for variant and mutation detection in PRKAR1A gene for Carney complex type 1

PreTest Information

Clinical History of Patient who is going for PRKAR1A Gene Carney complex type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PRKAR1A Gene Carney complex type 1 NGS Genetic DNA Test gene PRKAR1A

Detail Description

PRKAR1A Gene Carney Complex Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

PRKAR1A gene is a gene that encodes a protein that plays a crucial role in the regulation of cyclic AMP-dependent signaling pathways. Mutations in this gene have been linked to the development of Carney complex type 1 (CNC1), which is a rare autosomal dominant disorder characterized by multiple endocrine neoplasia, myxomas, and skin pigmentation abnormalities. CNC1 is caused by mutations in the PRKAR1A gene that result in the loss of function of the protein encoded by this gene.

Symptoms of Carney Complex Type 1

The symptoms of Carney Complex Type 1 can vary widely from person to person. Some of the most common symptoms include:

• Multiple endocrine neoplasia (MEN) – This is a condition that causes tumors to develop in two or more endocrine glands.
• Myxomas – These are noncancerous tumors that can develop in the heart, skin, and other parts of the body.
• Skin pigmentation abnormalities – These can include café-au-lait spots, freckles, and lentigines.
• Acromegaly – This is a condition that causes the hands, feet, and face to grow abnormally large due to excess growth hormone.

Diagnosis of Carney Complex Type 1

Diagnosis of Carney Complex Type 1 can be difficult, as the symptoms can be similar to those of other conditions. However, genetic testing can help confirm a diagnosis. The PRKAR1A gene Carney Complex Type 1 NGS genetic DNA test is a highly accurate test that can detect mutations in the PRKAR1A gene. This test can be performed on a blood sample or a sample of tissue from a tumor.

Cost of PRKAR1A Gene Carney Complex Type 1 NGS Genetic DNA Test

The cost of the PRKAR1A gene Carney Complex Type 1 NGS genetic DNA test in India is approximately INR 20,000. However, the cost may vary depending on the testing facility and the location.

Conclusion

Carney Complex Type 1 is a rare autosomal dominant disorder that can cause a range of symptoms, including multiple endocrine neoplasia, myxomas, and skin pigmentation abnormalities. Diagnosis can be difficult, but genetic testing can help confirm a diagnosis. The PRKAR1A gene Carney Complex Type 1 NGS genetic DNA test is a highly accurate test that can detect mutations in the PRKAR1A gene. If you suspect that you or a loved one may have Carney Complex Type 1, it is important to speak with a healthcare professional to discuss testing options.