Short Description

NGS genetic DNA test detecets for variant and mutation detection in COMP gene for Pseudoachondroplasia

PreTest Information

Clinical History of Patient who is going for COMP Gene Pseudoachondroplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COMP Gene Pseudoachondroplasia NGS Genetic DNA Test gene COMP

Detail Description

COMP Gene Pseudoachondroplasia NGS Genetic DNA Test

DNA Labs India offers a COMP Gene Pseudoachondroplasia NGS Genetic DNA Test for individuals who suspect they may have this rare genetic disorder. The cost of the test is INR 20,000.

Symptoms of Pseudoachondroplasia

Pseudoachondroplasia is a rare genetic disorder that affects bone growth. Some of the symptoms of the disorder include:

• Short stature
• Abnormally proportioned arms and legs
• Joint pain and stiffness
• Joint laxity
• Scoliosis
• Early-onset osteoarthritis

Diagnosing Pseudoachondroplasia

Diagnosing pseudoachondroplasia can be difficult, as the symptoms can be similar to other bone disorders. However, a genetic test can confirm the presence of the COMP gene mutation that causes the disorder.

The COMP Gene Pseudoachondroplasia NGS Genetic DNA Test

The COMP Gene Pseudoachondroplasia NGS Genetic DNA Test offered by DNA Labs India uses next-generation sequencing (NGS) technology to analyze an individual's DNA for the presence of the COMP gene mutation. This test provides a highly accurate diagnosis of the disorder.

Conclusion

If you suspect you may have pseudoachondroplasia, the COMP Gene Pseudoachondroplasia NGS Genetic DNA Test offered by DNA Labs India can provide an accurate diagnosis. With a cost of INR 20,000, this test is an affordable and reliable option for individuals seeking answers about their bone disorder.

Mutations in the COMP gene are indeed associated with a skeletal disorder called pseudoachondroplasia. Pseudoachondroplasia is a rare genetic condition that affects bone growth and development, leading to short stature and skeletal abnormalities.

The COMP gene encodes a protein called cartilage oligomeric matrix protein (COMP), which is important for the structure and function of cartilage in joints and bones.

Next-Generation Sequencing (NGS) technology can be used for genetic testing to identify mutations or variants in the COMP gene that are linked to pseudoachondroplasia. NGS allows for the analysis of multiple genes simultaneously, making it a powerful tool for diagnosing and understanding genetic disorders.

If you suspect pseudoachondroplasia or have a family history of this condition, consulting with a medical professional or genetic counselor is recommended. They can guide you through the testing process, help interpret the results, and provide personalized recommendations based on your specific situation.

Genetic testing, including NGS, can play a crucial role in accurate diagnosis, treatment planning, and genetic counseling for individuals and families affected by rare skeletal disorders like pseudoachondroplasia. It's important to work with knowledgeable healthcare professionals to ensure that you receive accurate and up-to-date information.