Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC35A1 gene for Glycosylation disorder type 2F

PreTest Information

Clinical History of Patient who is going for SLC35A1 Gene Glycosylation disorder type 2F NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder type 2F

Detail Description

SLC35A1 Gene Glycosylation Disorder Type 2F: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

SLC35A1 Gene Glycosylation Disorder Type 2F is a rare genetic condition that affects the glycosylation process in the body. Glycosylation is the process by which sugar molecules are added to proteins or lipids, forming glycoconjugates. These glycoconjugates are essential for the proper functioning of the body, and any disruption in the glycosylation process can lead to a range of symptoms and health problems.

Symptoms of SLC35A1 Gene Glycosylation Disorder Type 2F

The symptoms of SLC35A1 Gene Glycosylation Disorder Type 2F can vary depending on the severity of the condition. Some of the common symptoms include:

• Delayed development
• Intellectual disability
• Seizures
• Abnormal muscle tone
• Abnormal movements
• Microcephaly (small head size)
• Facial dysmorphism (abnormal facial features)

These symptoms may be present at birth or may develop over time.

Diagnosis of SLC35A1 Gene Glycosylation Disorder Type 2F

SLC35A1 Gene Glycosylation Disorder Type 2F is diagnosed through genetic testing. Next-generation sequencing (NGS) genetic testing is the most common method used for diagnosing this condition. NGS is a high-throughput sequencing technology that allows for the analysis of large amounts of DNA in a short amount of time. This type of testing can identify mutations in the SLC35A1 gene that are associated with Glycosylation Disorder Type 2F.

NGS Genetic DNA Test Cost for SLC35A1 Gene Glycosylation Disorder Type 2F

The cost of an NGS genetic DNA test for SLC35A1 Gene Glycosylation Disorder Type 2F in India is approximately INR 20,000. This cost may vary depending on the testing facility and the specific type of test being performed.

Conclusion

SLC35A1 Gene Glycosylation Disorder Type 2F is a rare genetic condition that can lead to a range of symptoms and health problems. The condition is diagnosed through genetic testing, and NGS genetic testing is the most common method used for diagnosis. The cost of an NGS genetic DNA test for this condition in India is approximately INR 20,000. If you or a loved one is experiencing symptoms of SLC35A1 Gene Glycosylation Disorder Type 2F, it is important to seek medical attention and consider genetic testing for an accurate diagnosis and appropriate treatment.