Short Description

NGS genetic DNA test detecets for variant and mutation detection in TUBGCP6 gene for Microcephaly and chorioretinopathy with or without mental retardation

PreTest Information

Clinical History of Patient who is going for TUBGCP6 Gene Microcephaly and chorioretinopathy with or without mental retardation NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TUBGCP6 Gene Microcephaly and chorioretinopathy with or without mental retardation NGS Genetic DNA Test gene TUBGCP6

Detail Description

TUBGCP6 Gene Microcephaly and Chorioretinopathy with or without Mental Retardation NGS Genetic DNA Test

Microcephaly is a rare neurological condition in which an infant’s head size is significantly smaller than the average for their age and sex. Chorioretinopathy is a condition that affects the retina and choroid, causing vision impairment. Mental retardation refers to a condition in which a person has below-average intellectual functioning and adaptive behavior.

Recent research has identified a genetic mutation in the TUBGCP6 gene that has been linked to microcephaly and chorioretinopathy with or without mental retardation. The TUBGCP6 gene provides instructions for making a protein that is essential for the proper division of cells during development.

If you suspect that you or a loved one may have this genetic mutation, DNA Labs India offers a NGS Genetic DNA Test to diagnose the condition. The cost of the test is INR 20,000.

Symptoms

The symptoms of microcephaly and chorioretinopathy with or without mental retardation can vary greatly depending on the severity of the condition. Some common symptoms include:

• Small head size
• Delayed growth and development
• Vision impairment
• Intellectual disability
• Seizures

If you or a loved one are experiencing any of these symptoms, it is important to consult with a medical professional.

Diagnosis

The diagnosis of microcephaly and chorioretinopathy with or without mental retardation can be made through a genetic test such as the NGS Genetic DNA Test offered by DNA Labs India. This test analyzes the DNA to identify the TUBGCP6 gene mutation.

If a diagnosis is made, your doctor may recommend additional tests to determine the severity of the condition and to develop a treatment plan.

Conclusion

The TUBGCP6 gene mutation is a rare genetic condition that can lead to microcephaly and chorioretinopathy with or without mental retardation. If you or a loved one are experiencing symptoms, it is important to consult with a medical professional and consider genetic testing.

DNA Labs India offers a NGS Genetic DNA Test to diagnose this condition with a cost of INR 20,000. Early diagnosis and intervention can help manage symptoms and improve quality of life.

For more information on the NGS Genetic DNA Test or to schedule a test, please contact DNA Labs India.