Short Description

NGS genetic DNA test detecets for variant and mutation detection in CACNA1F gene for Cone-rod dystrophy, X-linked type 3

PreTest Information

Clinical History of Patient who is going for CACNA1F Gene Cone-rod dystrophy, X-linked type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CACNA1F Gene Cone-rod dystrophy, X-linked type 3 NGS Genetic DNA Test gene CACNA1F

Detail Description

CACNA1F Gene Cone-rod dystrophy, X-linked type 3 NGS Genetic DNA Test

CACNA1F Gene Cone-rod dystrophy, X-linked type 3 is a rare genetic disorder that affects the retina, causing progressive vision loss. It is caused by mutations in the CACNA1F gene located on the X chromosome.

The symptoms of this condition include decreased visual acuity, sensitivity to light, and color vision abnormalities. These symptoms usually begin in childhood and progressively worsen over time. Individuals with this condition may also experience nystagmus, which is involuntary eye movement.

Diagnosis of CACNA1F Gene Cone-rod dystrophy, X-linked type 3 is usually made through a comprehensive eye exam, including visual acuity testing, fundus examination, and electroretinography (ERG). Genetic testing can confirm the diagnosis and identify the specific mutation responsible for the condition.

NGS Genetic DNA testing is a powerful tool for identifying genetic mutations associated with CACNA1F Gene Cone-rod dystrophy, X-linked type 3. This type of testing can detect mutations in the CACNA1F gene with high accuracy and specificity.

The cost of NGS Genetic DNA testing for CACNA1F Gene Cone-rod dystrophy, X-linked type 3 in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and any additional services or consultations that may be required.

If you or a loved one is experiencing symptoms of CACNA1F Gene Cone-rod dystrophy, X-linked type 3, it is important to seek medical attention and consider genetic testing for an accurate diagnosis and appropriate treatment options.