Short Description

NGS genetic DNA test detecets for variant and mutation detection in IER3IP1 gene for Microcephaly with epilepsy and diabetes syndrome

PreTest Information

Clinical History of Patient who is going for IER3IP1 Gene Microcephaly with epilepsy and diabetes syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IER3IP1 Gene Microcephaly with epilepsy and diabetes syndrome NGS Genetic DNA Test gene IER3IP1

Detail Description

IER3IP1 Gene Microcephaly with Epilepsy and Diabetes Syndrome NGS Genetic DNA Test

Microcephaly with epilepsy and diabetes syndrome is a rare genetic disorder that affects the development of the brain, leading to a smaller than average head size (microcephaly). This condition is caused by mutations in the IER3IP1 gene, which provides instructions for making a protein that is involved in the growth and development of the brain.

Symptoms of this condition include:

• Microcephaly
• Epilepsy
• Developmental delays
• Intellectual disability
• Diabetes
• Hypothyroidism

Diagnosis of microcephaly with epilepsy and diabetes syndrome is typically made through genetic testing. A next-generation sequencing (NGS) genetic DNA test can detect mutations in the IER3IP1 gene that cause this condition.

NGS Genetic DNA Test for Microcephaly with Epilepsy and Diabetes Syndrome

The NGS genetic DNA test for microcephaly with epilepsy and diabetes syndrome is a specialized test that analyzes the DNA sequence of the IER3IP1 gene. This test can detect mutations in the gene that cause this condition, allowing for an accurate diagnosis.

The cost of the NGS genetic DNA test for microcephaly with epilepsy and diabetes syndrome in India is INR 20,000.

Benefits of NGS Genetic DNA Testing

NGS genetic DNA testing offers several benefits over traditional genetic testing methods:

• NGS testing can analyze multiple genes simultaneously, allowing for more comprehensive testing and a more accurate diagnosis.
• NGS testing can detect mutations that are missed by other genetic testing methods.
• NGS testing is faster and more efficient than traditional genetic testing methods.

Conclusion

If you or a loved one is experiencing symptoms of microcephaly with epilepsy and diabetes syndrome, it is important to seek medical attention and consider genetic testing. The NGS genetic DNA test for this condition is an accurate and efficient way to diagnose the underlying genetic cause of this condition.

At DNA Labs India, we offer NGS genetic DNA testing for microcephaly with epilepsy and diabetes syndrome at an affordable cost of INR 20,000. Contact us today to learn more about this testing option and to schedule your appointment.