Short Description

NGS genetic DNA test detecets for variant and mutation detection in POC1B gene for Cone-rod dystrophy type 20

PreTest Information

Clinical History of Patient who is going for POC1B Gene Cone-rod dystrophy type 20 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POC1B Gene Cone-rod dystrophy type 20 NGS Genetic DNA Test gene POC1B

Detail Description

POC1B Gene Cone-rod dystrophy type 20 NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Cone-rod dystrophy type 20 is a genetic disorder that affects the retina, the part of the eye responsible for sensing light and transmitting nerve impulses to the brain. It is caused by mutations in the POC1B gene and is inherited in an autosomal recessive manner.

Symptoms

The symptoms of cone-rod dystrophy type 20 usually appear in childhood or adolescence and progressively worsen over time. These symptoms include:

• Decreased visual acuity
• Sensitivity to bright light
• Loss of color vision
• Difficulty seeing at night
• Loss of peripheral vision

Diagnosis

Cone-rod dystrophy type 20 can be diagnosed through genetic testing. The POC1B gene can be sequenced using Next Generation Sequencing (NGS) technology, which can identify any mutations present in the gene.

POC1B Gene Cone-rod dystrophy type 20 NGS Genetic DNA Test cost

The cost of the POC1B Gene Cone-rod dystrophy type 20 NGS Genetic DNA Test in India is INR 20,000. This test is offered by DNA Labs India, a leading provider of genetic testing services in the country.

This test can be ordered online through the DNA Labs India website or by visiting one of their testing centers. The test requires a blood or saliva sample, which can be collected at the testing center or through a home collection kit.

Conclusion

Cone-rod dystrophy type 20 is a rare genetic disorder that can cause significant visual impairment. Genetic testing can help diagnose this condition and provide valuable information for patients and their families. The POC1B Gene Cone-rod dystrophy type 20 NGS Genetic DNA Test is a reliable and affordable option for individuals who suspect they may have this condition or have a family history of the disorder.

If you have any questions about genetic testing or cone-rod dystrophy type 20, please contact DNA Labs India for more information.

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 POC1B Gene Cone-rod dystrophy type 20 NGS Genetic DNA Test