Short Description

NGS genetic DNA test detecets for variant and mutation detection in GNAT2 gene for Achromatopsia type 4

PreTest Information

Clinical History of Patient who is going for GNAT2 Gene Achromatopsia type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GNAT2 Gene Achromatopsia type 4 NGS Genetic DNA Test gene GNAT2

Detail Description

GNAT2 Gene Achromatopsia Type 4 NGS Genetic DNA Test: Cost, Symptoms, and Diagnosis

Are you experiencing color blindness or difficulty in distinguishing between colors? You might be suffering from Achromatopsia, a rare genetic disorder that affects the ability to perceive color and visual acuity. GNAT2 Gene Achromatopsia Type 4 is one of the four types of Achromatopsia, caused by mutations in the GNAT2 gene. In this blog, we will discuss the symptoms, diagnosis, and cost of the GNAT2 Gene Achromatopsia Type 4 NGS Genetic DNA Test offered by DNA Labs India.

Symptoms of GNAT2 Gene Achromatopsia Type 4

Achromatopsia is characterized by the absence or malfunction of cone cells in the retina, which are responsible for color vision and visual acuity. Individuals with GNAT2 Gene Achromatopsia Type 4 may experience the following symptoms:

• Complete color blindness
• Difficulty in distinguishing between shades of gray
• Photosensitivity
• Nystagmus (involuntary eye movements)
• Decreased visual acuity
• Central scotoma (blind spot in the center of the visual field)

These symptoms may vary in severity and can affect daily activities such as reading, driving, and recognizing faces.

Diagnosis of GNAT2 Gene Achromatopsia Type 4

Achromatopsia is a rare genetic disorder, and it is essential to get a proper diagnosis to receive appropriate treatment and management. The diagnosis of GNAT2 Gene Achromatopsia Type 4 involves a comprehensive eye exam, visual acuity test, color vision test, and electroretinography (ERG) to assess the function of the retina. Genetic testing is also recommended to identify mutations in the GNAT2 gene and confirm the diagnosis.

GNAT2 Gene Achromatopsia Type 4 NGS Genetic DNA Test Cost

DNA Labs India offers the GNAT2 Gene Achromatopsia Type 4 NGS Genetic DNA Test at a cost of INR 20,000. This test uses Next-Generation Sequencing (NGS) technology to analyze the GNAT2 gene's entire coding region, including intron-exon boundaries, to identify mutations that cause Achromatopsia. The test can detect both known and novel mutations and provide accurate results.

Conclusion

GNAT2 Gene Achromatopsia Type 4 is a rare genetic disorder that affects color vision and visual acuity. If you experience any symptoms of Achromatopsia, it is essential to get a proper diagnosis to receive appropriate treatment and management. DNA Labs India offers the GNAT2 Gene Achromatopsia Type 4 NGS Genetic DNA Test at an affordable cost, providing accurate results to help individuals receive the appropriate care and support.

Contact DNA Labs India today to schedule your GNAT2 Gene Achromatopsia Type 4 NGS Genetic DNA Test and receive the care you need to manage this rare genetic disorder.

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 GNAT2 Gene Achromatopsia type 4 NGS Genetic DNA Test