Short Description

NGS genetic DNA test detecets for variant and mutation detection in PRPH2 gene for Choroidal dystrophy, central areolar type 2

PreTest Information

Clinical History of Patient who is going for PRPH2 Gene Choroidal dystrophy, central areolar type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PRPH2 Gene Choroidal dystrophy, central areolar type 2 NGS Genetic DNA Test gene PRPH2

Detail Description

PRPH2 Gene Choroidal Dystrophy, Central Areolar Type 2 NGS Genetic DNA Test

PRPH2 gene choroidal dystrophy, central areolar type 2 (CACD2) is a rare genetic disorder that affects the retina and causes vision loss. It is caused by mutations in the PRPH2 gene, which provides instructions for making a protein that is essential for normal vision. CACD2 is inherited in an autosomal dominant pattern, which means that a person only needs one copy of the mutated gene to develop the condition.

Symptoms of CACD2

The symptoms of CACD2 usually begin in adulthood and include:

• Blurred or distorted vision
• Loss of central vision
• Difficulty seeing in low light
• Difficulty with color perception

It is important to note that the symptoms of CACD2 can vary widely from person to person, and some people may not experience any symptoms at all.

Diagnosis of CACD2

CACD2 is usually diagnosed through a combination of clinical examination and genetic testing. An ophthalmologist can examine the retina to look for signs of the condition, such as pigment changes and atrophy of the macula. Genetic testing can confirm a diagnosis by identifying mutations in the PRPH2 gene.

NGS Genetic DNA Test for CACD2

Next-generation sequencing (NGS) is a powerful tool for genetic testing that can identify mutations in multiple genes at once. The NGS genetic DNA test for CACD2 can identify mutations in the PRPH2 gene that cause the condition. This test is available at DNA Labs India and costs INR 20,000.

Conclusion

CACD2 is a rare genetic disorder that can cause vision loss in adulthood. It is caused by mutations in the PRPH2 gene, and is inherited in an autosomal dominant pattern. Symptoms include blurred or distorted vision, loss of central vision, difficulty seeing in low light, and difficulty with color perception. Diagnosis is usually made through a combination of clinical examination and genetic testing. The NGS genetic DNA test for CACD2 is available at DNA Labs India and costs INR 20,000.

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 PRPH2 Gene Choroidal dystrophy, central areolar type 2 NGS Genetic DNA Test