Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC4A11 gene for Corneal endothelial dystrophy type 2

PreTest Information

Clinical History of Patient who is going for SLC4A11 Gene Corneal endothelial dystrophy type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC4A11 Gene Corneal endothelial dystrophy type 2 NGS Genetic DNA Test gene SLC4A11

Detail Description

SLC4A11 Gene Corneal Endothelial Dystrophy Type 2 NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost in India

Corneal endothelial dystrophy type 2 (CHED2) is a rare genetic disorder that affects the cornea, the transparent outer layer of the eye that covers the iris and pupil. This disorder is caused by mutations in the SLC4A11 gene, which provides instructions for making a protein that helps maintain the health and function of the corneal endothelium, the layer of cells that lines the inside of the cornea.

If you suspect that you or someone you know may have CHED2, getting a genetic DNA test may help confirm the diagnosis and provide valuable information for treatment and management. In this blog, we will discuss the symptoms, diagnosis, and cost of the SLC4A11 gene corneal endothelial dystrophy type 2 NGS genetic DNA test in India.

Symptoms of CHED2

CHED2 is a progressive disorder that typically begins in infancy or early childhood. The symptoms of CHED2 may include:

• Cloudy or hazy cornea
• Reduced vision or blurred vision
• Light sensitivity
• Abnormal eye movements
• Increased risk of corneal infections or ulcers

The severity of these symptoms can vary depending on the age of onset and the extent of corneal damage. In some cases, CHED2 may be asymptomatic and only detected through routine eye exams.

Diagnosis of CHED2

Diagnosing CHED2 involves a comprehensive eye exam, including a visual acuity test, a slit-lamp exam, and a corneal pachymetry test to measure the thickness of the cornea. A genetic DNA test may also be recommended to confirm the diagnosis and identify any specific mutations in the SLC4A11 gene.

The SLC4A11 gene corneal endothelial dystrophy type 2 NGS genetic DNA test is a specialized test that uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the SLC4A11 gene. This test can detect the presence of any mutations in the gene that may be responsible for CHED2.

Cost of SLC4A11 Gene Corneal Endothelial Dystrophy Type 2 NGS Genetic DNA Test in India

The cost of the SLC4A11 gene corneal endothelial dystrophy type 2 NGS genetic DNA test in India may vary depending on the testing facility and the specific type of test used. On average, the cost of this test can range from INR 15,000 to INR 25,000.

It is important to note that this test may not be covered by insurance, and patients should check with their insurance provider before undergoing any genetic testing.

Conclusion

CHED2 is a rare genetic disorder that affects the cornea and can cause vision loss and other eye problems. If you suspect that you or someone you know may have CHED2, getting a genetic DNA test can help confirm the diagnosis and provide valuable information for treatment and management.

The SLC4A11 gene corneal endothelial dystrophy type 2 NGS genetic DNA test is a specialized test that uses next-generation sequencing technology to analyze the DNA sequence of the SLC4A11 gene. The cost of this test may vary, but it can provide valuable information for patients and their healthcare providers.

If you are interested in learning more about the SLC4A11 gene corneal endothelial dystrophy type 2 NGS genetic DNA test, contact DNA Labs India today.

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 SLC4A11 Gene Corneal endothelial dystrophy type 2 NGS Genetic DNA Test