Short Description

NGS genetic DNA test detecets for variant and mutation detection in VANGL1 gene for Caudal regression syndrome

PreTest Information

Clinical History of Patient who is going for VANGL1 Gene Caudal regression syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with VANGL1 Gene Caudal regression syndrome NGS Genetic DNA Test gene VANGL1

Detail Description

VANGL1 Gene Caudal Regression Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Caudal Regression Syndrome (CRS) is a rare congenital disorder that affects the lower half of the body, including the spinal cord, spinal column, and pelvis. The exact cause of CRS is still unknown, but studies have shown that mutations in the VANGL1 gene may be a contributing factor.

VANGL1 Gene

The VANGL1 gene is a crucial gene in the development of the neural tube, which forms the brain and spinal cord. Mutations in this gene have been linked to a variety of birth defects, including CRS. The VANGL1 gene is responsible for regulating the planar cell polarity pathway, which is essential for proper cell division and migration during embryonic development.

Caudal Regression Syndrome Symptoms

The symptoms of CRS can vary depending on the severity of the condition. Some of the common symptoms include:

• Partial or complete absence of the tailbone
• Abnormal curvature of the spine
• Abnormal positioning of the legs and feet
• Bladder and bowel problems
• Weakness or numbness in the legs

Diagnosis of Caudal Regression Syndrome

Diagnosis of CRS typically involves a physical examination, imaging tests such as X-rays or MRI, and genetic testing. Genetic testing can help determine if there are any mutations in the VANGL1 gene, which can aid in the diagnosis of CRS.

NGS Genetic DNA Test

DNA Labs India offers an NGS Genetic DNA Test that can detect mutations in the VANGL1 gene. This test is a non-invasive and painless procedure that involves a simple blood sample. The cost of the test is INR:20000.

Conclusion

Caudal Regression Syndrome is a rare congenital disorder that can have a significant impact on a person's quality of life. Mutations in the VANGL1 gene have been linked to the development of CRS, and genetic testing can aid in the diagnosis of the condition. DNA Labs India offers an NGS Genetic DNA Test that can detect mutations in the VANGL1 gene at a cost of INR:20000.