Short Description

NGS genetic DNA test detecets for variant and mutation detection in RFT1 gene for Glycosylation disorder type 1N

PreTest Information

Clinical History of Patient who is going for RFT1 Gene Glycosylation disorder type 1N NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder type 1N

Detail Description

RFT1 Gene Glycosylation Disorder Type 1N NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

RFT1 Gene Glycosylation Disorder Type 1N is a rare genetic disorder that affects the glycosylation process in the body. Glycosylation is a process by which sugars are added to proteins or lipids to create glycoproteins or glycolipids, which are important for the function of cells and tissues in the body. The RFT1 gene provides instructions for making a protein that is involved in the glycosylation process.

Symptoms

The symptoms of RFT1 Gene Glycosylation Disorder Type 1N can vary depending on the severity of the disorder. Some common symptoms include:

• Abnormal facial features
• Developmental delays
• Seizures
• Intellectual disability
• Abnormal muscle tone
• Organ dysfunction
• Growth delays

Diagnosis

Diagnosis of RFT1 Gene Glycosylation Disorder Type 1N can be challenging as it is a rare disorder. A doctor may perform a physical exam to check for the characteristic facial features associated with the disorder. Blood and urine tests can also be used to check for abnormalities in the glycosylation process. Genetic testing is the most reliable way to diagnose the disorder.

NGS Genetic DNA Test Cost INR:20000

The NGS Genetic DNA Test for RFT1 Gene Glycosylation Disorder Type 1N costs INR 20,000. This test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the RFT1 gene. The test is performed on a blood sample and can detect mutations in the gene that are associated with the disorder.

Conclusion

RFT1 Gene Glycosylation Disorder Type 1N is a rare genetic disorder that affects the glycosylation process in the body. The disorder can cause a range of symptoms, including abnormal facial features, developmental delays, seizures, and intellectual disability. Diagnosis of the disorder can be challenging, but genetic testing is the most reliable way to confirm the diagnosis. The NGS Genetic DNA Test for RFT1 Gene Glycosylation Disorder Type 1N costs INR 20,000 and can detect mutations in the RFT1 gene that are associated with the disorder.

If you suspect that you or a loved one may have RFT1 Gene Glycosylation Disorder Type 1N, it is important to speak with a healthcare professional. DNA Labs India offers genetic testing services for a range of disorders, including RFT1 Gene Glycosylation Disorder Type 1N. Contact us today to learn more about our services.