Short Description

NGS genetic DNA test detecets for variant and mutation detection in SORD gene for Cataract, congenital

PreTest Information

Clinical History of Patient who is going for SORD Gene Cataract, congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SORD Gene Cataract, congenital NGS Genetic DNA Test gene SORD

Detail Description

What is the SORD Gene and its Link to Congenital Cataract?

Genes play a vital role in determining the traits that we inherit from our parents. Mutations in genes can cause a range of genetic disorders, including congenital cataract. Congenital cataract is a clouding of the eye's lens that is present at birth or develops during childhood. The SORD gene is one of the genes that can cause congenital cataract.

The Role of the SORD Gene

The SORD gene provides instructions to make an enzyme called sorbitol dehydrogenase. This enzyme plays a crucial role in the metabolism of glucose, a sugar that is the main source of energy for cells. Sorbitol dehydrogenase converts sorbitol, a sugar alcohol, into fructose, another type of sugar that the body can use for energy.

Research has shown that mutations in the SORD gene can cause a range of health problems, including congenital cataract. Mutations in the SORD gene can interfere with the production or function of sorbitol dehydrogenase, leading to an accumulation of sorbitol in the lens of the eye. This accumulation can cause the lens to become cloudy, leading to vision problems.

Symptoms of Congenital Cataract

Congenital cataract can cause a range of symptoms, depending on the severity of the condition. Some common symptoms of congenital cataract include:

• Cloudy or blurry vision
• Sensitivity to light
• Poor depth perception
• Nystagmus (involuntary eye movements)
• Poor eye contact

If your child is exhibiting any of these symptoms, it's essential to have their eyes checked by a doctor. Early diagnosis and treatment can help prevent vision loss and improve your child's quality of life.

Diagnosis of Congenital Cataract

Diagnosing congenital cataract typically involves a comprehensive eye exam. During the exam, your doctor will examine your child's eyes for signs of cloudiness or other abnormalities. They may also perform other tests, such as:

• Visual acuity tests to measure your child's ability to see at different distances
• Eye pressure tests to check for glaucoma
• Refraction tests to measure your child's need for glasses or contact lenses
• Dilated eye exams to examine the back of the eye

NGS Genetic DNA Test for SORD Gene Cataract

If your child has been diagnosed with congenital cataract, your doctor may recommend a genetic test to determine if the SORD gene is involved. This test is known as Next-Generation Sequencing (NGS) Genetic DNA Test for SORD Gene Cataract. The test analyzes your child's DNA to look for mutations in the SORD gene that may be causing the condition.

Cost of NGS Genetic DNA Test for SORD Gene Cataract

The cost of the NGS Genetic DNA Test for SORD Gene Cataract in India is around INR 20,000. The cost may vary depending on the lab and location.

Conclusion

Congenital cataract is a genetic disorder that can cause vision problems in children. The SORD gene is one of the genes that can cause congenital cataract. If your child has been diagnosed with congenital cataract, a genetic test may be recommended to determine if the SORD gene is involved. The NGS Genetic DNA Test for SORD Gene Cataract can help identify mutations in the SORD gene and provide a more accurate diagnosis. Early diagnosis and treatment are crucial for managing congenital cataract and preventing vision loss.

At DNA Labs India, we offer a range of genetic tests, including the NGS Genetic DNA Test for SORD Gene Cataract. Our state-of-the-art lab and experienced team ensure accurate and timely results. Contact us today to learn more about our genetic testing services.

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 SORD Gene Cataract, congenital NGS Genetic DNA Test