STRADA Gene Polyhydramnios, megalencephaly, and symptomatic epilepsy NGS Genetic Test
Short Name: STRADA Gene NGS Test
Also known as: STRADA Gene Mutation Test, PMSE Genetic Test, STRADA NGS Panel
STRADA Gene Polyhydramnios, megalencephaly, and symptomatic epilepsy 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 Reports are typically delivered within 3 to 4 weeks from sample receipt.. 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 test is to identify pathogenic variants in the STRADA gene that cause polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE). This genetic confirmation helps in establishing a definitive diagnosis, guiding treatment strategies, assessing recurrence risks, and enabling informed family planning. It also helps differentiate PMSE from other similar neurological conditions.
- Test Code
- 5907
- CPT Code
- 81407
- ICD Code
- Q85.9
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended prior to testing to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No specific aftercare is needed. The sample will be transported to the laboratory for analysis.
Timeline: Reports are typically delivered within 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the STRADA gene that cause polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE). This genetic confirmation helps in establishing a definitive diagnosis, guiding treatment strategies, assessing recurrence risks, and enabling informed family planning. It also helps differentiate PMSE from other similar neurological conditions.
How to Prepare
- Ensure the patient's identity is verified with two identifiers.
- Use sterile EDTA tube for blood collection.
- 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.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis of STRADA mutations is crucial for managing seizures and developmental delays. This NGS test provides a definitive answer to guide treatment and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms the diagnosis of STRADA-related PMSE. Genetic counseling is recommended for management and family planning.
Negative (No pathogenic variant detected)
No evidence of STRADA gene mutation. Other genetic or non-genetic causes should be considered.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unclear. Additional testing of family members may help clarify.
Consult a geneticist or pediatric neurologist if the test result is positive or if you have concerns about the symptoms. Also, seek medical advice if seizures are poorly controlled or if developmental milestones are delayed.
Limitations
- ⚠This test detects mutations in the STRADA gene only; other genetic causes of similar symptoms are not evaluated.
- ⚠Variants of uncertain significance may be reported; further familial testing may be required.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be recommended.
- ⚠Test results should be interpreted in the context of clinical findings and family history.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for uncertain results (VUS) requiring further testing
Interfering Factors
- ●Poor DNA quality from degraded samples
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Incomplete clinical information may affect interpretation
Compare With Similar Tests
| Test | STRADA Gene Polyhydramnios, megalencephaly, and symptomatic epilepsy NGS Genetic Test | Whole Exome Sequencing (WES) | Targeted Epilepsy Panel | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | STRADA Gene Polyhydramnios, megalencephaly, and symptomatic epilepsy NGS Genetic Test | WES analyzes all coding regions of the genome, whereas this test focuses only on the STRADA gene. WES is more comprehensive but costlier and may have longer turnaround time. | Targeted panels include multiple epilepsy-related genes, including STRADA. This test is more specific and cost-effective if STRADA is strongly suspected. | CMA detects copy number variations but does not detect single nucleotide variants. This NGS test is better for point mutations. |
Frequently Asked Questions
What is the STRADA gene?
What is PMSE syndrome?
How is the test performed?
Is fasting required before the test?
What is the cost of the test?
How long does it take to get results?
Can this test be done during pregnancy?
What does a positive result mean?
What does a negative result mean?
Is genetic counseling included?
Is home sample collection available?
Are there any risks associated with the test?
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