Short Description

NGS genetic DNA test detecets for variant and mutation detection in SCARF2 gene for Van den Ende-Gupta syndrome

PreTest Information

Clinical History of Patient who is going for SCARF2 Gene Van den Ende-Gupta syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SCARF2 Gene Van den Ende-Gupta syndrome NGS Genetic DNA Test gene SCARF2

Detail Description

SCARF2 Gene and Van den Ende-Gupta Syndrome: Understanding Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Van den Ende-Gupta syndrome (VDEGS) is a rare genetic disorder that affects multiple body systems. It is characterized by distinctive facial features, joint contractures, and abnormalities of the fingers and toes. The syndrome is caused by mutations in the SCARF2 gene, which provides instructions for making a protein called SCARF2.

To diagnose VDEGS, doctors may perform a variety of tests, including physical exams, imaging studies, and genetic testing. Next-generation sequencing (NGS) is one such genetic testing method that can identify mutations in the SCARF2 gene with high accuracy.

What is the SCARF2 Gene?

The SCARF2 gene is located on chromosome 22 and provides instructions for making a protein called SCARF2. This protein is involved in cell signaling and plays a critical role in the development of multiple body systems, including the nervous system, cardiovascular system, and musculoskeletal system.

When mutations occur in the SCARF2 gene, it can lead to a wide range of health problems, including Van den Ende-Gupta syndrome.

What is Van den Ende-Gupta Syndrome?

Van den Ende-Gupta syndrome (VDEGS) is a rare genetic disorder that affects multiple body systems. It is characterized by distinctive facial features, joint contractures, and abnormalities of the fingers and toes.

The facial features of VDEGS include a small head, a prominent forehead, a small jaw, widely spaced eyes, and a flat nasal bridge. Joint contractures, or stiffness, may affect the elbows, knees, fingers, and toes. Additionally, people with VDEGS may have abnormalities of the fingers and toes, such as webbing or fusion.

Other health problems associated with VDEGS may include developmental delays, intellectual disability, hearing loss, and heart defects.

Diagnosing VDEGS

To diagnose VDEGS, doctors may perform a variety of tests, including:

• Physical exam: A doctor may look for characteristic facial features, joint stiffness, and abnormalities of the fingers and toes.
• Imaging studies: X-rays or other imaging studies may be used to evaluate joint stiffness or abnormalities.
• Genetic testing: Genetic testing may be used to confirm a diagnosis of VDEGS. Next-generation sequencing (NGS) is a genetic testing method that can identify mutations in the SCARF2 gene with high accuracy.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic testing for VDEGS in India may vary depending on the laboratory and the specific test being performed. However, the cost is typically around INR 20,000.

Conclusion

VDEGS is a rare genetic disorder that can cause a wide range of health problems. It is caused by mutations in the SCARF2 gene, which can be identified through genetic testing methods such as NGS. If you suspect that you or a loved one may have VDEGS, it is important to speak with a healthcare provider to determine the best course of action.

For more information on genetic testing and VDEGS, visit DNA Labs India.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for SCARF2 Gene Van den Ende-Gupta syndrome NGS Genetic DNA Test