Short Description

NGS genetic DNA test detecets for variant and mutation detection in PDE6C gene for Cone-rod dystrophy type 4

PreTest Information

Clinical History of Patient who is going for PDE6C Gene Cone-rod dystrophy type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PDE6C Gene Cone-rod dystrophy type 4 NGS Genetic DNA Test gene PDE6C

Detail Description

PDE6C Gene Cone-rod dystrophy type 4 NGS Genetic DNA Test

Cone-rod dystrophy type 4 (CORD4) is a rare genetic disorder that affects the retina of the eye. It is caused by mutations in the PDE6C gene, which provides instructions for making an enzyme called phosphodiesterase 6C. This enzyme is essential for the normal function of photoreceptor cells in the retina, which are responsible for detecting light and transmitting visual signals to the brain.

NGS genetic DNA testing is a powerful tool for diagnosing CORD4 and other genetic disorders. This test uses next-generation sequencing technology to analyze the DNA sequence of the PDE6C gene and identify any mutations that may be present.

Symptoms of CORD4

The symptoms of CORD4 typically begin in childhood or adolescence and gradually worsen over time. They may include:

• Loss of visual acuity
• Reduced sensitivity to colors
• Night blindness
• Visual field loss
• Photophobia (sensitivity to light)

These symptoms can be similar to those of other eye disorders, so it is important to consult a healthcare professional for an accurate diagnosis.

Diagnosis of CORD4

Diagnosing CORD4 typically involves a comprehensive eye exam, including visual acuity testing, color vision testing, and examination of the retina using specialized equipment. Genetic testing, such as NGS genetic DNA testing, can also be used to confirm a diagnosis of CORD4.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for CORD4 varies depending on the specific testing provider. At DNA Labs India, the cost of this test is INR 20,000.

Conclusion

CORD4 is a rare genetic disorder that can cause significant vision loss over time. NGS genetic DNA testing is a powerful tool for diagnosing this disorder and identifying any potential mutations in the PDE6C gene. If you or a loved one are experiencing symptoms of CORD4, it is important to consult a healthcare professional for an accurate diagnosis and appropriate treatment.

At DNA Labs India, we are committed to providing accurate and affordable genetic testing services to individuals and healthcare providers throughout India. Contact us today to learn more about our NGS genetic DNA testing for CORD4 and other genetic disorders.

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 PDE6C Gene Cone-rod dystrophy type 4 NGS Genetic DNA Test