Short Description

NGS genetic DNA test detecets for variant and mutation detection in PITPNM3 gene for Cone-rod dystrophy type 5

PreTest Information

Clinical History of Patient who is going for PITPNM3 Gene Cone-rod dystrophy type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PITPNM3 Gene Cone-rod dystrophy type 5 NGS Genetic DNA Test gene PITPNM3

Detail Description

PITPNM3 Gene Cone-rod dystrophy type 5 NGS Genetic DNA Test

Cone-rod dystrophy (CRD) is an inherited retinal disorder that affects the light-sensitive cells of the retina. It is a rare condition that causes a gradual loss of vision. Cone-rod dystrophy type 5 (CRD5) is caused by mutations in the PITPNM3 gene, which provides instructions for making a protein called phosphatidylinositol transfer protein alpha (PITPNA).

NGS Genetic DNA Test is a diagnostic test that can identify genetic mutations in the PITPNM3 gene. The test is performed using next-generation sequencing (NGS) technology, which can analyze multiple genes at once. The cost of the PITPNM3 Gene Cone-rod dystrophy type 5 NGS Genetic DNA Test is INR 20,000.

Symptoms of CRD5

The symptoms of CRD5 usually appear in childhood or adolescence and gradually worsen over time. The symptoms include:

• Progressive vision loss
• Difficulty seeing in bright light
• Loss of color vision
• Difficulty seeing at night
• Blurred or distorted vision
• Photophobia (sensitivity to light)

Diagnosis of CRD5

Diagnosis of CRD5 involves a comprehensive eye exam, which includes:

• Visual acuity test to measure the sharpness of vision
• Slit-lamp examination to examine the structures of the eye
• Fundus examination to examine the retina
• Electroretinogram (ERG) to measure the electrical response of the retina to light
• Genetic testing to identify mutations in the PITPNM3 gene

Conclusion

The PITPNM3 Gene Cone-rod dystrophy type 5 NGS Genetic DNA Test is a valuable diagnostic tool for identifying mutations in the PITPNM3 gene. Early diagnosis can help in the management of the condition and prevent further vision loss. The cost of the test is INR 20,000, and it is recommended for individuals with symptoms of CRD5 or a family history of the condition.

At DNA Labs India, we offer a wide range of genetic tests, including the PITPNM3 Gene Cone-rod dystrophy type 5 NGS Genetic DNA Test. Our team of experienced genetic counselors and scientists is committed to providing accurate and reliable test results to our clients. Contact us today to learn more about our services.

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 PITPNM3 Gene Cone-rod dystrophy type 5 NGS Genetic DNA Test