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PAX6 Gene Coloboma, ocular, autosomal dominant NGS Genetic DNA Test Cost 20000 Rs
PAX6 Gene Coloboma, ocular, autosomal dominant NGS Genetic DNA Test Details
PAX6 Gene Coloboma: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost
Coloboma is a rare genetic eye disorder that affects the structure of the eye. It can occur in one or both eyes and can cause vision problems. The PAX6 gene is one of the genes that is associated with coloboma. In this blog post, we will discuss the symptoms and diagnosis of PAX6 gene coloboma and the cost of the NGS genetic DNA test in India.
Symptoms of PAX6 Gene Coloboma
The symptoms of PAX6 gene coloboma can vary depending on the severity of the condition. Some common symptoms include:
- Abnormal pupil shape or size
- Missing or misshapen iris
- Cataracts
- Nystagmus (involuntary eye movements)
- Blurred vision or poor visual acuity
These symptoms can be present at birth or may develop later in life. It is important to note that not all individuals with PAX6 gene mutations will develop coloboma, and some may have no symptoms at all.
Diagnosis of PAX6 Gene Coloboma
Diagnosis of PAX6 gene coloboma involves a comprehensive eye exam and genetic testing. During the eye exam, an ophthalmologist will look for any structural abnormalities in the eye. Genetic testing can help identify mutations in the PAX6 gene that are associated with coloboma.
NGS genetic DNA testing is a highly accurate and reliable method for identifying genetic mutations. This type of testing can detect mutations in multiple genes at once, making it a valuable tool for diagnosing genetic conditions such as coloboma.
NGS Genetic DNA Test Cost in India
The cost of NGS genetic DNA testing for PAX6 gene coloboma in India is typically around INR 20,000. This cost may vary depending on the specific testing facility and any additional services that may be required.
While the cost of genetic testing may seem high, it is important to remember that early diagnosis and treatment of genetic conditions can greatly improve outcomes and quality of life for affected individuals. In addition, genetic testing can provide valuable information for family members who may also be at risk for the condition.
Conclusion
PAX6 gene coloboma is a rare genetic eye disorder that can cause vision problems. Symptoms can vary depending on the severity of the condition, and diagnosis involves a comprehensive eye exam and genetic testing. NGS genetic DNA testing is a valuable tool for diagnosing genetic conditions such as coloboma, and the cost of testing in India is typically around INR 20,000. If you or a loved one is experiencing symptoms of coloboma, it is important to speak with a healthcare professional as soon as possible.
For more information about genetic testing for PAX6 gene coloboma, contact DNA Labs India today.
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 PAX6 Gene Coloboma, ocular, autosomal dominant NGS Genetic DNA Test
