Short Description

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

PreTest Information

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

Detail Description

DNA Labs India: SALL4 Gene Duane Retraction Syndrome NGS Genetic DNA Test

SALL4 Gene Duane Retraction Syndrome is a rare genetic disorder that affects eye movement and the ability to move the eyes side to side. The disorder is caused by a mutation in the SALL4 gene, which provides instructions for making a protein that plays a critical role in the development of the eyes and other organs.

The symptoms of SALL4 Gene Duane Retraction Syndrome include limited eye movement, difficulty moving the eyes side to side, and a misalignment of the eyes. These symptoms can lead to vision problems and, in severe cases, can cause blindness. The disorder can also cause other physical abnormalities, such as webbing of the fingers or toes.

Diagnosis

SALL4 Gene Duane Retraction Syndrome is diagnosed through genetic testing. The most common type of genetic testing used to diagnose the disorder is Next Generation Sequencing (NGS), which is a type of genetic test that analyzes the entire genome. NGS testing can identify mutations in the SALL4 gene that are associated with the disorder.

The cost of the NGS Genetic DNA Test for SALL4 Gene Duane Retraction Syndrome in India is INR 20,000.

Treatment

There is currently no cure for SALL4 Gene Duane Retraction Syndrome. Treatment focuses on managing the symptoms of the disorder and preventing complications. This may include using glasses or contact lenses to correct vision problems, and surgery to correct eye alignment.

Conclusion

If you or a loved one is experiencing symptoms of SALL4 Gene Duane Retraction Syndrome, it is important to seek medical attention and get tested for the disorder. DNA Labs India offers the NGS Genetic DNA Test for SALL4 Gene Duane Retraction Syndrome at a cost of INR 20,000. Early diagnosis and treatment can help manage symptoms and prevent complications.

For more information or to schedule a genetic test, contact DNA Labs India today.