Short Description

NGS genetic DNA test detecets for variant and mutation detection in PXDN gene for Corneal opacification and other ocular anomalies

PreTest Information

Clinical History of Patient who is going for PXDN Gene Corneal opacification and other ocular anomalies NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PXDN Gene Corneal opacification and other ocular anomalies NGS Genetic DNA Test gene PXDN

Detail Description

PXDN Gene Corneal Opacification and Other Ocular Anomalies NGS Genetic DNA Test

Corneal opacification and other ocular anomalies can be caused by a variety of genetic mutations. One such mutation is found in the PXDN gene. This gene provides instructions for making a protein that is involved in the formation and maintenance of the extracellular matrix (ECM) in the cornea and other tissues.

When the PXDN gene is mutated, it can lead to corneal opacification, which is the clouding of the cornea that can cause vision impairment. Other ocular anomalies that can be caused by PXDN mutations include cataracts, glaucoma, and other abnormalities of the eye.

Symptoms

The symptoms of corneal opacification and other ocular anomalies can vary depending on the severity of the mutation. Some of the common symptoms include:

• Cloudy or hazy vision
• Blurred vision
• Double vision
• Sensitivity to light
• Eye pain or discomfort
• Difficulty seeing at night

Diagnosis

Diagnosis of PXDN gene mutations can be confirmed through genetic testing. Next-generation sequencing (NGS) is a powerful tool that can identify mutations in the PXDN gene with a high degree of accuracy. NGS involves sequencing the entire gene and analyzing the results for any mutations that may be present.

If a mutation is identified, a comprehensive eye exam may be necessary to determine the extent of the ocular anomalies and to develop an appropriate treatment plan.

Cost

The cost of the PXDN gene corneal opacification and other ocular anomalies NGS genetic DNA test is INR 20,000. This test is covered by most insurance plans, and DNA Labs India also offers financing options for those who need assistance with payment.

Conclusion

If you or a loved one are experiencing symptoms of corneal opacification or other ocular anomalies, genetic testing may be a valuable tool in identifying the underlying cause of the condition. The PXDN gene mutation is one of many genetic mutations that can lead to ocular abnormalities, and NGS is a reliable and accurate method for detecting these mutations.

At DNA Labs India, we are committed to providing our patients with the most advanced genetic testing options available. Contact us today to learn more about our services and how we can help you.

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 PXDN Gene Corneal opacification and other ocular anomalies NGS Genetic DNA Test