Short Description

NGS genetic DNA test detecets for variant and mutation detection in SALL4 gene for IVIC syndrome

PreTest Information

Clinical History of Patient who is going for SALL4 Gene IVIC syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SALL4 Gene IVIC syndrome NGS Genetic DNA Test gene SALL4

Detail Description

SALL4 Gene IVIC Syndrome NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

IVIC syndrome is a rare genetic disorder that affects the development of various parts of the body. It is caused by mutations in the SALL4 gene, which is involved in the regulation of embryonic development. The symptoms of IVIC syndrome can vary widely, but may include facial abnormalities, heart defects, limb malformations, and intellectual disability.

What is the SALL4 Gene?

The SALL4 gene is located on chromosome 20 and codes for a protein that is important in the regulation of embryonic development. Specifically, it is involved in the formation and maintenance of the mesoderm and endoderm, which are the middle and inner layers of the developing embryo. These layers give rise to many different organs and tissues in the body, including the heart, lungs, liver, and kidneys.

What is IVIC Syndrome?

IVIC syndrome is a rare genetic disorder that is caused by mutations in the SALL4 gene. It is characterized by a wide range of symptoms that can affect various parts of the body. Some of the most common symptoms of IVIC syndrome include:

• Facial abnormalities, such as cleft lip and palate, small eyes, and a short nose
• Heart defects, such as atrial septal defects and ventricular septal defects
• Limb malformations, such as missing or extra fingers and toes, and underdeveloped or absent bones in the arms and legs
• Intellectual disability

The severity of IVIC syndrome can vary widely, even among individuals with the same genetic mutation. Some people may have only mild symptoms, while others may have more severe and life-threatening complications.

How is IVIC Syndrome Diagnosed?

IVIC syndrome is typically diagnosed based on a combination of clinical features and genetic testing. A doctor may suspect IVIC syndrome based on a child's physical appearance and medical history. Genetic testing can then confirm the diagnosis by identifying mutations in the SALL4 gene.

NGS Genetic DNA Test Cost INR 20,000

NGS (next-generation sequencing) is a powerful tool for genetic testing that can analyze large amounts of DNA in a short amount of time. This technology is particularly useful for identifying mutations in genes like SALL4 that are associated with rare genetic disorders.

The cost of an NGS genetic DNA test for IVIC syndrome in India is typically around INR 20,000. This cost may vary depending on the specific laboratory and testing method used.

Conclusion

IVIC syndrome is a rare genetic disorder that is caused by mutations in the SALL4 gene. It can cause a wide range of symptoms that can affect various parts of the body. If you suspect that your child may have IVIC syndrome, it is important to seek medical attention and consider genetic testing to confirm the diagnosis. NGS genetic DNA testing is a powerful tool that can help identify mutations in the SALL4 gene and provide a definitive diagnosis.

At DNA Labs India, we offer NGS genetic DNA testing for IVIC syndrome at an affordable cost of INR 20,000. Our state-of-the-art laboratory and expert team of geneticists ensure accurate and reliable testing results. Contact us today to learn more about our genetic testing services and how we can help you and your family.