IER3IP1 Gene Microcephaly with epilepsy and diabetes syndrome Genetic Test
Test Cost: AED 4400.0
Symptoms and Diagnosis
Microcephaly with epilepsy and diabetes syndrome is a rare genetic disorder characterized by microcephaly (abnormally small head size), epilepsy (seizures), and diabetes. To diagnose this syndrome, a genetic test for the IER3IP1 gene is conducted.
Test Components and Details
The IER3IP1 Gene Microcephaly with epilepsy and diabetes syndrome Genetic Test is performed using NGS (Next-Generation Sequencing) technology. This method allows for the analysis of an individual’s DNA sequence to identify genetic mutations or variants in the IER3IP1 gene.
Sample Condition:
The sample required for the test can be either blood, extracted DNA, or one drop of blood on an FTA card.
Report Delivery:
The test results are typically delivered within 3 to 4 weeks.
Test Type:
The test falls under the category of Dysmorphology.
Doctor:
The test is recommended for Pediatrics patients.
Test Department:
The test is conducted in the Genetics department.
Pre Test Information
Prior to undergoing the IER3IP1 Gene Microcephaly with epilepsy and diabetes syndrome NGS Genetic DNA Test, it is essential to provide the clinical history of the patient. Additionally, a Genetic Counselling session may be conducted to draw a pedigree chart of family members affected by this genetic disorder.
Test Process
The test involves collecting a sample of the individual’s DNA, usually through a blood sample or a cheek swab. The collected DNA is then subjected to NGS sequencing, which allows for the detection of specific genetic variants or mutations in the IER3IP1 gene.
Importance of Test Results
If a mutation or variant is identified in the IER3IP1 gene through NGS testing, it can provide valuable information for diagnosing Microcephaly with epilepsy and diabetes syndrome. This information can guide medical management and treatment options for individuals affected by this rare genetic disorder.
| Test Name | IER3IP1 Gene Microcephaly with epilepsy and diabetes syndrome Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Dysmorphology |
| Doctor | Pediatrics |
| Test Department: | Genetics |
| Pre Test 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 |
| Test Details |
The IER3IP1 gene is associated with a rare genetic disorder called Microcephaly with epilepsy and diabetes syndrome. This syndrome is characterized by microcephaly (abnormally small head size), epilepsy (seizures), and diabetes. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of an individual. It can be used to identify genetic mutations or variants in specific genes, such as the IER3IP1 gene. By analyzing the DNA sequence, NGS testing can help diagnose genetic disorders, including Microcephaly with epilepsy and diabetes syndrome. The NGS genetic test for IER3IP1 gene mutations involves collecting a sample of the individual’s DNA, usually through a blood sample or a cheek swab. The DNA is then sequenced using advanced technology, which allows for the detection of specific genetic variants or mutations in the IER3IP1 gene. If a mutation or variant is identified in the IER3IP1 gene through NGS testing, it can provide valuable information for diagnosing Microcephaly with epilepsy and diabetes syndrome. This can help guide medical management and treatment options for individuals with this rare genetic disorder. |
