Short Description

NGS genetic DNA test detecets for variant and mutation detection in YAP1 gene for Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation

PreTest Information

Clinical History of Patient who is going for YAP1 Gene Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with YAP1 Gene Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation NGS Genetic DNA Test gene YAP1

Detail Description

YAP1 Gene Coloboma - Symptoms, Diagnosis and NGS Genetic DNA Test Cost

YAP1 gene coloboma is a genetic disorder that affects the eyes, ears, and facial structure of an individual. The condition is characterized by the presence of coloboma, which is a gap or hole in one of the structures of the eye such as the iris, retina, or optic nerve. Coloboma can affect one or both eyes and can cause vision problems such as blurred vision, poor night vision, and sensitivity to light.

In addition to coloboma, individuals with YAP1 gene mutations may also experience hearing impairment, cleft lip and/or palate, and mental retardation. These symptoms can vary in severity from person to person.

Symptoms of YAP1 Gene Coloboma

As mentioned earlier, YAP1 gene coloboma is characterized by the presence of coloboma in one or both eyes. Other symptoms of the condition may include:

• Hearing impairment
• Cleft lip and/or palate
• Mental retardation

The severity of these symptoms can vary from person to person. Some individuals may only experience mild vision problems, while others may have more severe hearing loss, facial deformities, and cognitive impairments.

Diagnosis of YAP1 Gene Coloboma

YAP1 gene coloboma is a genetic disorder, which means it is caused by mutations in the YAP1 gene. To diagnose the condition, a genetic test is required. This test can be performed using Next-Generation Sequencing (NGS) technology.

The NGS genetic DNA test for YAP1 gene coloboma costs approximately INR 20,000 in India. The test involves sequencing the DNA of the individual to look for mutations in the YAP1 gene. If a mutation is found, it confirms the diagnosis of YAP1 gene coloboma.

Conclusion

YAP1 gene coloboma is a genetic disorder that can affect the eyes, ears, and facial structure of an individual. The condition is characterized by the presence of coloboma, hearing impairment, cleft lip and/or palate, and mental retardation. The severity of these symptoms can vary from person to person.

A genetic test using NGS technology is required to diagnose YAP1 gene coloboma. The cost of the test is approximately INR 20,000 in India. If you suspect that you or your child may have YAP1 gene coloboma, it is important to consult with a genetic counselor or healthcare provider who can provide you with more information about the condition and the available treatment options.

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 YAP1 Gene Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation NGS Genetic DNA Test