IER3IP1 Gene Microcephaly with epilepsy and diabetes syndrome NGS Genetic Test
Short Name: IER3IP1 NGS Test
Also known as: IER3IP1 Gene Sequencing, Microcephaly Epilepsy Diabetes Syndrome Genetic Test, MEDS NGS Panel
IER3IP1 Gene Microcephaly with epilepsy and diabetes syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to detect pathogenic mutations in the IER3IP1 gene that cause microcephaly with epilepsy and diabetes syndrome. It aids in confirming a clinical diagnosis, identifying carriers in at-risk families, and providing information for genetic counseling and family planning. The test is also useful for differential diagnosis in patients presenting with microcephaly and epilepsy of unknown etiology.
- Test Code
- 5850
- CPT Code
- 81407
- ICD Code
- Q04.3
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a fingerstick blood drop is applied to the card. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. The sample will be sent to the laboratory for analysis. Results are typically available in 3 to 4 weeks.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the IER3IP1 gene that cause microcephaly with epilepsy and diabetes syndrome. It aids in confirming a clinical diagnosis, identifying carriers in at-risk families, and providing information for genetic counseling and family planning. The test is also useful for differential diagnosis in patients presenting with microcephaly and epilepsy of unknown etiology.
How to Prepare
- Ensure the patient's identity is verified before sample collection.
- Use EDTA vacutainer for blood collection; mix gently to prevent clotting.
- For FTA card, apply one drop of blood onto the designated circle and allow to air dry.
- Label the sample with patient's name, date of birth, and collection date.
- Transport the sample to the laboratory at ambient temperature within 24 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for IER3IP1 mutations is crucial for early diagnosis and management of this rare syndrome. NGS provides high sensitivity and specificity."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of MEDS. Genetic counseling recommended for family planning.
Likely pathogenic variant detected
Highly suggestive of MEDS; further segregation analysis may be recommended.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity; additional testing or family studies may be needed.
No pathogenic variant detected
MEDS is unlikely; consider other genetic causes of microcephaly and epilepsy.
If you or your child has symptoms such as microcephaly, seizures, developmental delay, or early-onset diabetes, consult a pediatric neurologist or geneticist. Genetic testing can provide a definitive diagnosis and guide management.
Limitations
- ⚠This test detects mutations in the IER3IP1 gene only; other genes causing similar phenotypes are not analyzed.
- ⚠Variant of uncertain significance (VUS) may be reported; further functional studies may be needed.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Test does not assess non-coding regulatory regions beyond standard coverage.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings (unrelated genetic variants)
Interfering Factors
- ●Poor quality DNA due to improper sample handling
- ●Contamination during sample collection
- ●Recent blood transfusion (may dilute DNA)
- ●Bone marrow transplantation (may affect results)
Compare With Similar Tests
| Test | IER3IP1 Gene Microcephaly with epilepsy and diabetes syndrome NGS Genetic Test | Chromosomal Microarray (CMA) | Sanger Sequencing | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | IER3IP1 Gene Microcephaly with epilepsy and diabetes syndrome NGS Genetic Test | CMA detects copy number variations but does not identify single-gene mutations. NGS is more suitable for detecting point mutations in IER3IP1. | Sanger sequencing is targeted and can detect mutations in a specific gene, but it is less efficient for multiple genes. NGS can analyze multiple genes simultaneously. | WES covers all coding regions of the genome and may identify mutations in other genes, but it is more expensive and time-consuming. This targeted NGS test is more cost-effective for suspected MEDS. |
Frequently Asked Questions
What is the IER3IP1 gene test?
Who should get this test?
What sample is required?
Do I need to fast before the test?
How long does it take to get results?
What is the cost of the test?
Is home sample collection available?
What does a positive result mean?
What does a negative result mean?
Can this test be used for prenatal diagnosis?
Is genetic counseling included?
Are there any risks associated with the test?
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