Short Description

NGS genetic DNA test detecets for variant and mutation detection in VSX1 gene for Corneal dystrophy, posterior polymorphous, type 1

PreTest Information

Clinical History of Patient who is going for VSX1 Gene Corneal dystrophy, posterior polymorphous, type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with VSX1 Gene Corneal dystrophy, posterior polymorphous, type 1 NGS Genetic DNA Test gene VSX1

Detail Description

VSX1 Gene Corneal Dystrophy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Corneal dystrophies are a group of inherited eye disorders that affect the cornea, the clear front part of the eye. One of the rarest types of corneal dystrophy is posterior polymorphous corneal dystrophy, type 1 (PPCD1). This type of corneal dystrophy is caused by mutations in the VSX1 gene, which provides instructions for making a protein that is important for the development and maintenance of the cornea.

Symptoms of PPCD1

The symptoms of PPCD1 can vary, but they often include:

• Blurred vision
• Light sensitivity
• Halos around lights
• Cloudy or hazy vision
• Eye pain or discomfort

These symptoms can be mild or severe, and they may become worse over time. In some cases, people with PPCD1 may not experience any symptoms at all.

Diagnosis of PPCD1

PPCD1 is a rare condition, and it can be difficult to diagnose. In many cases, it is diagnosed during a routine eye exam when a doctor notices unusual changes in the cornea. To confirm a diagnosis of PPCD1, a doctor may perform additional tests, such as:

• Corneal topography: This test measures the shape of the cornea and can help identify abnormalities.
• Corneal pachymetry: This test measures the thickness of the cornea.
• Genetic testing: This test can identify mutations in the VSX1 gene that are associated with PPCD1.

NGS Genetic DNA Test for PPCD1

NGS (Next Generation Sequencing) Genetic DNA testing is a powerful tool for identifying genetic mutations associated with PPCD1. This test can sequence the entire VSX1 gene and identify any mutations that may be causing the condition. The cost of an NGS Genetic DNA test for PPCD1 in India is approximately INR 20,000.

NGS Genetic DNA testing is a non-invasive procedure that involves taking a small sample of blood or saliva. The sample is then sent to a laboratory for analysis. Results are typically available within a few weeks.

Conclusion

PPCD1 is a rare type of corneal dystrophy that is caused by mutations in the VSX1 gene. Symptoms can vary, but they often include blurred vision, light sensitivity, halos around lights, cloudy or hazy vision, and eye pain or discomfort. Diagnosis can be difficult, but corneal topography, corneal pachymetry, and genetic testing can help confirm a diagnosis. NGS Genetic DNA testing is a powerful tool for identifying genetic mutations associated with PPCD1, and it is available in India at a cost of approximately INR 20,000.

If you are experiencing any of the symptoms of PPCD1, or if you have a family history of the condition, it is important to speak with an eye doctor. They can perform the necessary tests to diagnose the condition and recommend appropriate treatment options.

For more information on corneal dystrophies and genetic testing, 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 VSX1 Gene Corneal dystrophy, posterior polymorphous, type 1 NGS Genetic DNA Test