Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACP5 gene for Spondyloenchondrodysplasia with immune dysregulation

PreTest Information

Clinical History of Patient who is going for ACP5 Gene Spondyloenchondrodysplasia with immune dysregulation NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ACP5 Gene Spondyloenchondrodysplasia with immune dysregulation NGS Genetic DNA Test gene ACP5

Detail Description

ACP5 Gene Spondyloenchondrodysplasia with immune dysregulation NGS Genetic DNA Test

Spondyloenchondrodysplasia with immune dysregulation is a rare genetic disorder that affects the immune system and skeletal system. It is caused by mutations in the ACP5 gene, which provides instructions for making an enzyme called tartrate-resistant acid phosphatase (TRAP). This enzyme is essential for the normal development and maintenance of bones and immune cells.

Symptoms of Spondyloenchondrodysplasia with Immune Dysregulation

The symptoms of spondyloenchondrodysplasia with immune dysregulation can vary greatly from person to person. Some of the common symptoms include:

• Abnormal bone development
• Short stature
• Joint pain and stiffness
• Frequent infections
• Autoimmune disorders

Diagnosis of Spondyloenchondrodysplasia with Immune Dysregulation

The diagnosis of spondyloenchondrodysplasia with immune dysregulation is usually made based on a combination of clinical findings and genetic testing. Genetic testing is necessary to confirm the presence of mutations in the ACP5 gene.

NGS Genetic DNA Test for ACP5 Gene Spondyloenchondrodysplasia with Immune Dysregulation

The NGS Genetic DNA Test for ACP5 Gene Spondyloenchondrodysplasia with Immune Dysregulation is a highly accurate and sensitive test that can detect mutations in the ACP5 gene. This test is performed using next-generation sequencing (NGS) technology, which allows for the simultaneous analysis of multiple genes. The test can be done using a blood or saliva sample and is non-invasive.

Cost of NGS Genetic DNA Test for ACP5 Gene Spondyloenchondrodysplasia with Immune Dysregulation

The cost of the NGS Genetic DNA Test for ACP5 Gene Spondyloenchondrodysplasia with Immune Dysregulation is INR 20,000.

Conclusion

Spondyloenchondrodysplasia with immune dysregulation is a rare genetic disorder that affects the immune system and skeletal system. The NGS Genetic DNA Test for ACP5 Gene Spondyloenchondrodysplasia with Immune Dysregulation is a highly accurate and sensitive test that can detect mutations in the ACP5 gene. If you or a loved one is experiencing symptoms of this disorder, it is important to seek medical attention and genetic testing.

If you are interested in learning more about the NGS Genetic DNA Test for ACP5 Gene Spondyloenchondrodysplasia with Immune Dysregulation, please contact DNA Labs India.