Short Description

NGS genetic DNA test detecets for variant and mutation detection in CDHR1 gene for Cone-rod dystrophy type 15

PreTest Information

Clinical History of Patient who is going for CDHR1 Gene Cone-rod dystrophy type 15 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CDHR1 Gene Cone-rod dystrophy type 15 NGS Genetic DNA Test gene CDHR1

Detail Description

CDHR1 Gene Cone-rod dystrophy type 15 NGS Genetic DNA Test - Symptoms, Diagnosis and Cost

Cone-rod dystrophy type 15 is a rare genetic disorder that affects the retina of the eye. It is caused by mutations in the CDHR1 gene, which is responsible for the production of a protein that plays a crucial role in the development and maintenance of the photoreceptor cells in the retina. Cone-rod dystrophy type 15 is an autosomal recessive disorder, which means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder.

The symptoms of cone-rod dystrophy type 15 can vary depending on the severity and progression of the disorder. The most common symptoms include:

• Loss of central vision
• Difficulty distinguishing colors
• Night blindness
• Reduced visual acuity
• Sensitivity to light

Diagnosis of cone-rod dystrophy type 15 can be confirmed through genetic testing. NGS genetic DNA testing is a highly effective method for identifying mutations in the CDHR1 gene. This test can also be used to diagnose other types of cone-rod dystrophy and related disorders.

The cost of CDHR1 Gene Cone-rod dystrophy type 15 NGS Genetic DNA Test at DNA Labs India is INR 20,000. The test involves the collection of a blood or saliva sample, which is then analyzed in a laboratory using advanced sequencing technology.

Early diagnosis of cone-rod dystrophy type 15 can help individuals and their families to better understand the disorder and its progression. This can lead to more effective management of the symptoms and improved quality of life. Genetic testing can also provide valuable information for family planning and genetic counseling.

At DNA Labs India, we offer a wide range of genetic testing services to help individuals and families better understand their genetic makeup and the potential risks for inherited disorders. Our team of experienced genetic counselors and laboratory technicians are committed to providing accurate and reliable testing services at an affordable cost.

If you or a loved one are experiencing symptoms of cone-rod dystrophy type 15 or other related disorders, contact us today to learn more about how genetic testing can help.

The CDHR1 gene encodes a protein called Cadherin-Related Family Member 1 (CDHR1), which is involved in the development and maintenance of photoreceptor cells in the retina.

Mutations in the CDHR1 gene can lead to Cone-Rod Dystrophy Type 15, which is characterized by the degeneration of cone and rod cells in the retina, leading to vision impairment.

NGS (Next-Generation Sequencing) genetic DNA tests are used to analyze the DNA sequence of genes like CDHR1 to identify any mutations or variants that may be associated with Cone-Rod Dystrophy Type 15.

If you or someone you know is considering genetic testing for Cone-Rod Dystrophy related to the CDHR1 gene, I recommend consulting with an ophthalmologist (eye specialist), a medical geneticist, or a genetic counselor. They can provide accurate and current information about the condition, the implications of genetic testing, and any available treatment options. Medical knowledge can evolve, so it's important to rely on expert guidance for the latest information.