Short Description

NGS genetic DNA test detecets for variant and mutation detection in RIMS1 gene for Cone-rod dystrophy type 7

PreTest Information

Clinical History of Patient who is going for RIMS1 Gene Cone-rod dystrophy type 7 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RIMS1 Gene Cone-rod dystrophy type 7 NGS Genetic DNA Test gene RIMS1

Detail Description

RIMS1 Gene Cone-Rod Dystrophy Type 7 NGS Genetic DNA Test

Cone-rod dystrophy type 7 (CRD7) is a rare genetic disorder that affects the retina of the eye. It is caused by mutations in the RIMS1 gene, which provides instructions for making a protein that is essential for the proper functioning of photoreceptor cells in the retina. CRD7 is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Symptoms of CRD7

The symptoms of CRD7 usually begin in childhood or adolescence and worsen over time. The first symptom is often decreased vision, especially in low light conditions. Other symptoms include:

• Loss of color vision
• Difficulty seeing fine detail
• Progressive loss of peripheral vision
• Night blindness

Eventually, many people with CRD7 will become legally blind.

Diagnosis of CRD7

Diagnosis of CRD7 typically involves a comprehensive eye exam, including visual acuity testing, color vision testing, and visual field testing. Genetic testing can also be used to confirm a diagnosis of CRD7. This involves analyzing a person's DNA for mutations in the RIMS1 gene.

RIMS1 Gene Cone-Rod Dystrophy Type 7 NGS Genetic DNA Test Cost

The cost of the RIMS1 gene cone-rod dystrophy type 7 NGS genetic DNA test in India is approximately INR 20,000. This test is a next-generation sequencing (NGS) test that analyzes a person's DNA for mutations in the RIMS1 gene. It is a highly accurate and reliable test that can confirm a diagnosis of CRD7 and help guide treatment and management decisions.

Conclusion

CRD7 is a rare genetic disorder that affects the retina of the eye and can lead to progressive vision loss and blindness. Genetic testing, such as the RIMS1 gene cone-rod dystrophy type 7 NGS genetic DNA test, can help confirm a diagnosis and guide treatment decisions. If you or a loved one is experiencing vision problems, it is important to seek the advice of a qualified healthcare professional.

RIMS1 Gene Cone-Rod Dystrophy Type 7 NGS Genetic DNA Test Cost in India

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 RIMS1 Gene Cone-rod dystrophy type 7 NGS Genetic DNA Test