Short Description

NGS genetic DNA test detecets for variant and mutation detection in TENM1 gene for Colobomatous microphthalmia

PreTest Information

Clinical History of Patient who is going for TENM1 Gene Colobomatous microphthalmia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TENM1 Gene Colobomatous microphthalmia NGS Genetic DNA Test gene TENM1

Detail Description

TENM1 Gene Colobomatous microphthalmia NGS Genetic DNA Test

Colobomatous microphthalmia is a rare genetic disorder that affects the eyes, causing them to be abnormally small and incomplete. The TENM1 gene is one of the genes associated with this disorder, and genetic testing can help diagnose it. DNA Labs India provides a NGS Genetic DNA Test for TENM1 Gene Colobomatous microphthalmia, with a cost of INR 20,000.

Symptoms of Colobomatous microphthalmia

The symptoms of colobomatous microphthalmia can vary, but typically include:

• Small eyes
• Missing or abnormal eye structures, such as the iris, retina, or optic nerve
• Impaired vision
• Nystagmus (involuntary eye movements)
• Strabismus (crossed eyes)

These symptoms can range from mild to severe and can affect one or both eyes. In some cases, colobomatous microphthalmia can also be associated with other health problems, such as hearing loss or intellectual disability.

Diagnosing Colobomatous microphthalmia

Diagnosing colobomatous microphthalmia typically involves a comprehensive eye exam, including a dilated eye exam, visual acuity testing, and imaging tests such as an MRI or CT scan. Genetic testing can also be used to confirm a diagnosis and identify the specific genetic mutation responsible for the disorder.

TENM1 Gene Colobomatous microphthalmia NGS Genetic DNA Test

The TENM1 Gene Colobomatous microphthalmia NGS Genetic DNA Test offered by DNA Labs India is a comprehensive genetic test that analyzes the TENM1 gene for mutations associated with colobomatous microphthalmia. This test uses next-generation sequencing (NGS) technology to identify genetic variations that may be responsible for the disorder.

The cost of the TENM1 Gene Colobomatous microphthalmia NGS Genetic DNA Test is INR 20,000. Results are typically available within a few weeks and can provide valuable information for diagnosis, treatment, and genetic counseling.

Conclusion

Colobomatous microphthalmia is a rare genetic disorder that affects the eyes and can cause significant vision problems. Genetic testing, such as the TENM1 Gene Colobomatous microphthalmia NGS Genetic DNA Test offered by DNA Labs India, can help diagnose the disorder and identify the specific genetic mutation responsible. Early diagnosis and treatment can help manage symptoms and improve outcomes for individuals with colobomatous microphthalmia.

For more information about DNA Labs India's genetic testing services, visit their website.

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 TENM1 Gene Colobomatous microphthalmia NGS Genetic DNA Test