Short Description

NGS genetic DNA test detecets for variant and mutation detection in SSR4 gene for Glycosylation disorder x-linked

PreTest Information

Clinical History of Patient who is going for SSR4 Gene Glycosylation disorder x-linked NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder x-linked

Detail Description

SSR4 Gene Glycosylation Disorder X-Linked NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

SSR4 Gene Glycosylation Disorder X-Linked is a rare genetic disorder that affects the glycosylation process in the body. This disorder is caused by a mutation in the SSR4 gene, which is located on the X chromosome. As a result, this disorder primarily affects males, as they only have one X chromosome. Females can be carriers of the disorder but do not typically exhibit symptoms.

Symptoms of SSR4 Gene Glycosylation Disorder X-Linked

The symptoms of SSR4 Gene Glycosylation Disorder X-Linked can vary widely from person to person. Some common symptoms include:

• Severe developmental delay
• Intellectual disability
• Hypotonia (low muscle tone)
• Seizures
• Facial dysmorphism (abnormal facial features)
• Microcephaly (small head size)
• Delayed growth and development

Diagnosis of SSR4 Gene Glycosylation Disorder X-Linked

Diagnosis of SSR4 Gene Glycosylation Disorder X-Linked is typically done through genetic testing. Next-generation sequencing (NGS) is a common method used to detect mutations in the SSR4 gene. This test is highly accurate and can identify the specific mutation causing the disorder. The cost of the NGS Genetic DNA Test for SSR4 Gene Glycosylation Disorder X-Linked is typically around INR:20000.

Treatment and Management of SSR4 Gene Glycosylation Disorder X-Linked

Currently, there is no cure for SSR4 Gene Glycosylation Disorder X-Linked. Treatment is focused on managing the symptoms and improving quality of life. This may include physical therapy, speech therapy, and medication to control seizures. It is important for individuals with this disorder to receive regular medical care to monitor their health and address any issues that may arise.

Conclusion

SSR4 Gene Glycosylation Disorder X-Linked is a rare genetic disorder that primarily affects males. Symptoms can vary widely from person to person and diagnosis is typically done through genetic testing. While there is no cure for this disorder, treatment and management can help improve quality of life. If you suspect that you or a loved one may have SSR4 Gene Glycosylation Disorder X-Linked, it is important to seek medical care and genetic testing to confirm the diagnosis.

For more information about SSR4 Gene Glycosylation Disorder X-Linked and genetic testing, contact DNA Labs India.