CUX2 Gene Early infantile epileptic encephalopathy type 67 NGS Genetic Test
Short Name: CUX2 EIEE67 NGS Test
Also known as: CUX2 Gene Sequencing, Early Infantile Epileptic Encephalopathy Type 67 Genetic Test, EIEE67 NGS Panel
CUX2 Gene Early infantile epileptic encephalopathy type 67 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger sequencing validation (if required) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically available within 3 to 4 weeks after sample submission. The exact time may vary based on the complexity of the variant analysis.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The primary purpose of the CUX2 gene NGS genetic test is to confirm or rule out a molecular diagnosis of Early Infantile Epileptic Encephalopathy Type 67 (EIEE67). This test is indicated for infants and children presenting with early-onset seizures and developmental delay, especially when a genetic aetiology is suspected. Identifying a pathogenic mutation in the CUX2 gene helps clinicians establish a definitive diagnosis, avoid unnecessary investigations, guide prognostic counselling, and inform recurrence risk for family planning. Additionally, the test can identify at-risk family members who may benefit from early intervention.
- Test Code
- 4040
- CPT Code
- 81408
- ICD Code
- G40.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after sample submission. The exact time may vary based on the complexity of the variant analysis.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger sequencing validation (if required)
Sample Collection
No fasting is required. The patient may continue all regular medications. For infants, no special preparation is needed. A genetic counselling session is recommended before the test to discuss the clinical history and draw a pedigree chart of family members affected with EIEE67.
Method: Peripheral venipuncture or dried blood spot on FTA card
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. For infants and children, a small volume of blood (2-3 ml) will be drawn from a peripheral vein. Alternatively, a few drops of blood may be collected on an FTA card for dried blood spot testing. The procedure is safe and minimally invasive.
Report Delivery
After blood collection, the sample is sent to the laboratory for NGS analysis. The patient can resume normal activities immediately. Parents or guardians will receive the report after a turnaround time of 3 to 4 weeks. Genetic counselling is strongly advised post-test to understand the implications of the results.
Timeline: Reports are typically available within 3 to 4 weeks after sample submission. The exact time may vary based on the complexity of the variant analysis.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the CUX2 gene NGS genetic test is to confirm or rule out a molecular diagnosis of Early Infantile Epileptic Encephalopathy Type 67 (EIEE67). This test is indicated for infants and children presenting with early-onset seizures and developmental delay, especially when a genetic aetiology is suspected. Identifying a pathogenic mutation in the CUX2 gene helps clinicians establish a definitive diagnosis, avoid unnecessary investigations, guide prognostic counselling, and inform recurrence risk for family planning. Additionally, the test can identify at-risk family members who may benefit from early intervention.
How to Prepare
- Use an EDTA lavender-top tube for whole blood collection.
- For FTA card, apply one drop of blood per spot and allow to dry completely before sealing.
- Label the sample correctly with patient name, date of birth, and collection date.
- Transport the sample to the laboratory at ambient temperature (15-25°C).
- Ensure the sample is not hemolyzed or clotted.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis of EIEE67 through genetic testing can significantly influence therapeutic decisions and family planning. The CUX2 gene mutation analysis by NGS is a reliable and cost-effective approach for affected infants."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample in EDTA tube
- Insufficient quantity of sample
- Improperly labeled sample
- Sample received after prolonged storage (more than 10 days) without proper preservation
Understanding Your Results
Positive
Pathogenic or likely pathogenic variant detected in CUX2 gene. Diagnostic of EIEE67.
Followup: Referral to a pediatric neurologist for seizure management and developmental support. Genetic counselling for the family.
Negative
No pathogenic variants found in the CUX2 gene. EIEE67 due to CUX2 mutation is unlikely.
Followup: Consider broader epilepsy gene panel or chromosomal microarray to investigate other genetic causes.
VUS
A variant of uncertain significance detected. It is unclear whether this variant causes disease.
Followup: Testing of parents (segregation analysis) and further evaluation may help clarify the significance.
Consult your physician or a genetic specialist if your child shows any signs of early seizures, developmental regression, or abnormal muscle tone. Early diagnosis through genetic testing can significantly improve outcomes by enabling early therapeutic intervention and appropriate family planning.
Limitations
- ⚠This test only analyzes the CUX2 gene and does not rule out other causes of early infantile epileptic encephalopathy.
- ⚠NGS may not detect all types of mutations, such as large structural variants or deep intronic mutations.
- ⚠Variants of uncertain significance (VUS) may require additional family studies for interpretation.
- ⚠The test cannot predict the exact severity or progression of the disease in an affected individual.
- ⚠Genetic testing results should be interpreted in conjunction with clinical evaluation by a specialist.
Risks & Considerations
- ●No significant physical risks from blood collection except minor bruising or discomfort
- ●Potential psychological impact of receiving a genetic diagnosis
- ●Possibility of discovering incidental genetic findings unrelated to the presenting symptoms
Interfering Factors
- ●Poor quality or insufficient DNA sample
- ●Maternal contamination of the sample (if fetal DNA is suspected)
- ●Presence of large genomic deletions or duplications that may be missed by standard NGS
- ●Low-level mosaicism that may fall below detection threshold
- ●Incidental findings unrelated to the clinical question
Compare With Similar Tests
| Test | CUX2 Gene Early infantile epileptic encephalopathy type 67 NGS Genetic Test | Epilepsy Gene Panel (NGS) | Chromosomal Microarray | Sanger Sequencing for CUX2 |
|---|---|---|---|---|
| Comparison | CUX2 Gene Early infantile epileptic encephalopathy type 67 NGS Genetic Test |
Frequently Asked Questions
What is Early Infantile Epileptic Encephalopathy Type 67 (EIEE67)?
What is the cost of the CUX2 gene NGS genetic test in India?
What does the CUX2 NGS test detect?
Which sample is required for the CUX2 gene test?
How long does it take to get results?
Is fasting required before this test?
Can this test be done on an infant?
What are the symptoms of EIEE67?
Does a negative test rule out all forms of epilepsy?
Is there any risk from the blood test?
Will home sample collection be provided?
What is the need for genetic counselling before the test?
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