Short Description

NGS genetic DNA test detecets for variant and mutation detection in ARHGAP31 gene for Adams-Oliver syndrome type 1

PreTest Information

Clinical History of Patient who is going for ARHGAP31 Gene Adams-Oliver syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ARHGAP31 Gene Adams-Oliver syndrome type 1 NGS Genetic DNA Test gene ARHGAP31

Detail Description

ARHGAP31 Gene Adams-Oliver Syndrome Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Adams-Oliver Syndrome is a rare genetic disorder that affects the development of the limbs, scalp, and skull. It is caused by mutations in the ARHGAP31 gene, which produces a protein that helps control the growth and development of cells in these areas. Adams-Oliver Syndrome is classified into two types, Type 1 and Type 2, with Type 1 being caused by mutations in the ARHGAP31 gene.

Symptoms of Adams-Oliver Syndrome Type 1

The symptoms of Adams-Oliver Syndrome Type 1 can vary greatly from person to person, but some common symptoms include:

• Missing or underdeveloped fingers or toes
• Scalp defects, such as missing hair or skin
• Skull defects, such as missing bone or abnormal shape
• Heart defects
• Blood vessel abnormalities

Other symptoms may include developmental delays, intellectual disability, and hearing or vision problems.

Diagnosis of Adams-Oliver Syndrome Type 1

The diagnosis of Adams-Oliver Syndrome Type 1 is typically made based on a physical examination and medical history. Genetic testing can also be used to confirm the diagnosis and identify the specific ARHGAP31 gene mutation responsible for the disorder. Next-generation sequencing (NGS) genetic testing is a powerful tool that can rapidly sequence large amounts of DNA and identify mutations in specific genes, including ARHGAP31.

ARHGAP31 Gene Adams-Oliver Syndrome Type 1 NGS Genetic DNA Test Cost INR:20000

DNA Labs India offers an ARHGAP31 Gene Adams-Oliver Syndrome Type 1 NGS Genetic DNA Test for INR 20000. This test uses NGS technology to sequence the ARHGAP31 gene and identify mutations that may be responsible for Adams-Oliver Syndrome Type 1. The test is non-invasive and can be performed using a simple blood sample. Results are typically available within a few weeks, and genetic counseling is available to help individuals and families understand their results and make informed decisions about their health.

Conclusion

Adams-Oliver Syndrome Type 1 is a rare genetic disorder that can have a significant impact on a person's health and development. Genetic testing, such as the ARHGAP31 Gene Adams-Oliver Syndrome Type 1 NGS Genetic DNA Test offered by DNA Labs India, can help diagnose the disorder and identify specific gene mutations responsible for it. Early diagnosis and genetic counseling can help individuals and families better understand the disorder and make informed decisions about their health and treatment options.

If you suspect that you or a loved one may have Adams-Oliver Syndrome Type 1, talk to your healthcare provider about genetic testing options and how DNA Labs India can help.