Short Description

NGS genetic DNA test detecets for variant and mutation detection in ASXL1 gene for Bohring-Opitz syndrome

PreTest Information

Clinical History of Patient who is going for ASXL1 Gene Bohring-Opitz syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ASXL1 Gene Bohring-Opitz syndrome NGS Genetic DNA Test gene ASXL1

Detail Description

ASXL1 Gene Bohring-Opitz Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Bohring-Opitz Syndrome is a rare genetic disorder that affects the development of the brain and other parts of the body. The syndrome is caused by mutations in the ASXL1 gene, which provides instructions for making a protein that plays a role in the regulation of gene expression. DNA Labs India offers a genetic DNA test for the ASXL1 gene, which can help diagnose Bohring-Opitz Syndrome. The cost of the test is INR 20000.

Symptoms of Bohring-Opitz Syndrome

The symptoms of Bohring-Opitz Syndrome can vary widely, but some of the most common include:

• Severe intellectual disability
• Distinct facial features, including a small head, wide-set eyes, and a small jaw
• Low muscle tone
• Seizures
• Respiratory problems
• Abnormal curvature of the spine

Bohring-Opitz Syndrome is a progressive disorder, which means that symptoms may worsen over time. Children with the syndrome may also have feeding difficulties and be more susceptible to infections.

Diagnosing Bohring-Opitz Syndrome

Bohring-Opitz Syndrome is diagnosed through a combination of physical examinations, medical history, and genetic testing. The genetic DNA test for the ASXL1 gene offered by DNA Labs India can help confirm a diagnosis of Bohring-Opitz Syndrome. A blood or saliva sample is required for the test, and results are usually available within a few weeks.

The Importance of Genetic Testing

Genetic testing can provide valuable information about a person's risk for certain conditions, including Bohring-Opitz Syndrome. Early diagnosis can lead to early intervention and treatment, which can improve outcomes for children with the syndrome. Genetic testing can also provide information about the risk of passing the condition on to future generations.

Conclusion

Bohring-Opitz Syndrome is a rare genetic disorder that can cause severe intellectual disability and other health problems. DNA Labs India offers a genetic DNA test for the ASXL1 gene, which can help diagnose the condition. The cost of the test is INR 20000. Early diagnosis through genetic testing can lead to early intervention and better outcomes for children with Bohring-Opitz Syndrome.

If you suspect your child may have Bohring-Opitz Syndrome, speak to your doctor about the possibility of genetic testing. DNA Labs India provides accurate and reliable genetic testing services for a wide range of genetic disorders.

For more information about the ASXL1 gene Bohring-Opitz Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis, contact DNA Labs India today.