Short Description

NGS genetic DNA test detecets for variant and mutation detection in CHN1 gene for Duane Retraction syndrome

PreTest Information

Clinical History of Patient who is going for CHN1 Gene Duane Retraction syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CHN1 Gene Duane Retraction syndrome NGS Genetic DNA Test gene CHN1

Detail Description

CHN1 Gene Duane Retraction Syndrome NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Duane Retraction Syndrome (DRS) is a rare congenital disorder that affects the movement of the eyes. It is caused by an abnormality in the development of the cranial nerves that control the eye muscles. The CHN1 gene is known to be associated with this condition. A genetic DNA test can help diagnose DRS and determine the presence of the CHN1 gene. In this blog, we will discuss the symptoms, diagnosis, and cost of the CHN1 Gene Duane Retraction Syndrome NGS Genetic DNA Test.

Symptoms of Duane Retraction Syndrome

DRS is characterized by an inability to move the eye outward from the nose (adduction) and/or inward from the ear (abduction). The affected eye may also retract or pull inward when attempting to move it in a certain direction. These symptoms are usually present at birth or become noticeable in early childhood. Other symptoms may include:

• Squinting or closing one eye in bright light
• Tilting the head to compensate for limited eye movement
• Poor depth perception
• Amblyopia (lazy eye)

Diagnosis of Duane Retraction Syndrome

DRS can usually be diagnosed through a comprehensive eye exam by an ophthalmologist. The exam may include:

• Visual acuity test to measure how well the eye can see
• Eye movement test to assess the range of motion of the eyes
• Retinal exam to check for abnormalities in the retina or optic nerve
• Orthoptic evaluation to assess eye alignment and binocular vision

In some cases, a genetic DNA test may be recommended to confirm the diagnosis and identify the presence of the CHN1 gene.

CHN1 Gene Duane Retraction Syndrome NGS Genetic DNA Test

The CHN1 Gene Duane Retraction Syndrome NGS Genetic DNA Test is a Next-Generation Sequencing (NGS) test that analyzes the CHN1 gene for mutations or variations that may be associated with DRS. The test requires a blood or saliva sample and can be performed at a genetic testing laboratory.

The test can help confirm a diagnosis of DRS and determine if the CHN1 gene is present. It can also provide information about the inheritance pattern of the condition, which can be helpful for family planning and genetic counseling.

Cost of the CHN1 Gene Duane Retraction Syndrome NGS Genetic DNA Test

The cost of the CHN1 Gene Duane Retraction Syndrome NGS Genetic DNA Test in India is approximately INR 20,000. The cost may vary depending on the testing laboratory and location.

Conclusion

The CHN1 Gene Duane Retraction Syndrome NGS Genetic DNA Test is a valuable tool for diagnosing DRS and identifying the presence of the CHN1 gene. It can provide important information for treatment, family planning, and genetic counseling. If you or a loved one is experiencing symptoms of DRS, it is important to speak with an ophthalmologist and consider genetic testing.

For more information on genetic testing and DNA labs in India, visit DNA Labs India.