Short Description

NGS genetic DNA test detecets for variant and mutation detection in RPGRIP1 gene for Cone-rod dystrophy type 13

PreTest Information

Clinical History of Patient who is going for RPGRIP1 Gene Cone-rod dystrophy type 13 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RPGRIP1 Gene Cone-rod dystrophy type 13 NGS Genetic DNA Test gene RPGRIP1

Detail Description

RPGRIP1 Gene Cone-rod dystrophy type 13 NGS Genetic DNA Test

RPGRIP1 gene cone-rod dystrophy type 13 is a rare genetic disorder that affects the retina of the eye and can lead to vision loss over time. This disorder is caused by mutations in the RPGRIP1 gene, which provides instructions for making a protein that is important for the proper functioning of the photoreceptor cells in the retina.

NGS Genetic DNA Testing is a highly advanced technology that can help diagnose RPGRIP1 gene cone-rod dystrophy type 13 at an early stage. The test is a non-invasive, painless procedure that involves analyzing a person's DNA to look for mutations in the RPGRIP1 gene.

Symptoms of RPGRIP1 Gene Cone-rod dystrophy type 13

The symptoms of RPGRIP1 gene cone-rod dystrophy type 13 can vary from person to person. Some common symptoms include:

• Vision loss
• Night blindness
• Color blindness
• Sensitivity to light
• Difficulty seeing in dimly lit areas

These symptoms usually begin in childhood or adolescence and gradually worsen over time.

Diagnosis of RPGRIP1 Gene Cone-rod dystrophy type 13

Diagnosing RPGRIP1 gene cone-rod dystrophy type 13 can be challenging because the symptoms are similar to those of other eye disorders. However, NGS Genetic DNA Testing can help identify mutations in the RPGRIP1 gene that are associated with this disorder.

The test involves taking a small sample of blood or saliva and analyzing it in a laboratory. The results of the test can help doctors make an accurate diagnosis and develop a treatment plan.

Cost of RPGRIP1 Gene Cone-rod dystrophy type 13 NGS Genetic DNA Test

The cost of RPGRIP1 gene cone-rod dystrophy type 13 NGS Genetic DNA Testing in India is approximately INR 20,000. The cost may vary depending on the location and the laboratory that performs the test.

However, the cost of the test should not deter individuals from getting tested. Early diagnosis and treatment can help slow down the progression of the disorder and improve quality of life.

Conclusion

RPGRIP1 gene cone-rod dystrophy type 13 is a rare genetic disorder that can lead to vision loss over time. NGS Genetic DNA Testing is a highly advanced technology that can help diagnose the disorder at an early stage. The cost of the test may vary, but it is an important investment in one's health and well-being.

If you are experiencing symptoms of RPGRIP1 gene cone-rod dystrophy type 13 or have a family history of the disorder, it is important to consult a medical professional and consider getting tested.

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 RPGRIP1 Gene Cone-rod dystrophy type 13 NGS Genetic DNA Test