Short Description

NGS genetic DNA test detecets for variant and mutation detection in RAX2 gene for Cone-rod dystrophy type 11

PreTest Information

Clinical History of Patient who is going for RAX2 Gene Cone-rod dystrophy type 11 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RAX2 Gene Cone-rod dystrophy type 11 NGS Genetic DNA Test gene RAX2

Detail Description

RAX2 Gene Cone-rod dystrophy type 11 NGS Genetic DNA Test

Cone-rod dystrophy type 11, also known as CRD11, is a rare genetic disorder that affects the eyes. It is caused by mutations in the RAX2 gene, which is responsible for the development and maintenance of the retina. Individuals with CRD11 experience progressive vision loss, starting with problems with color vision and central vision, and eventually leading to complete blindness.

Early diagnosis of CRD11 is important for better management of the condition. NGS Genetic DNA testing is a highly accurate and reliable method of detecting mutations in the RAX2 gene. DNA Labs India offers CRD11 NGS Genetic DNA testing at a cost of INR 20,000.

Symptoms of CRD11

The symptoms of CRD11 typically appear in childhood or adolescence and worsen over time. The first symptom is usually difficulty distinguishing colors, followed by problems with central vision. Other symptoms include:

• Night blindness
• Peripheral vision loss
• Blurred vision
• Sensitivity to bright lights
• Difficulty adapting to changes in lighting

It is important to note that the symptoms of CRD11 can vary widely among individuals, even within the same family.

Diagnosis of CRD11

CRD11 is diagnosed through a combination of clinical evaluation, family history, and genetic testing. A comprehensive eye exam is usually the first step in the diagnostic process. The doctor will examine the retina and look for signs of degeneration. Family history is also important, as CRD11 is an inherited condition.

Genetic testing, specifically NGS Genetic DNA testing, is the most accurate method of diagnosing CRD11. This test analyzes the patient's DNA for mutations in the RAX2 gene. If a mutation is found, it confirms the diagnosis of CRD11.

Cost of CRD11 NGS Genetic DNA Testing

The cost of CRD11 NGS Genetic DNA testing at DNA Labs India is INR 20,000. This includes the cost of the test, as well as the interpretation and analysis of the results by a team of experienced geneticists.

Conclusion

CRD11 is a rare genetic disorder that causes progressive vision loss. Early diagnosis through NGS Genetic DNA testing is important for better management of the condition. DNA Labs India offers CRD11 NGS Genetic DNA testing at a cost of INR 20,000. If you or a loved one is experiencing symptoms of CRD11, speak to your doctor about the possibility of genetic testing.

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 RAX2 Gene Cone-rod dystrophy type 11 NGS Genetic DNA Test