ELOVL4 Gene Ichthyosis, spastic quadriplegia, and mental retardation NGS Genetic Test
Short Name: ELOVL4 NGS Genetic Test
Also known as: ELOVL4-related neuro-ichthyotic syndrome, ISQMR
ELOVL4 Gene Ichthyosis, spastic quadriplegia, and mental retardation 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose ELOVL4 Gene Ichthyosis, Spastic Quadriplegia, and Mental Retardation through genetic analysis.
- Test Code
- 2415
- 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
Provide clinical history and undergo genetic counseling to draw a pedigree chart.
Method: Venipuncture
Laboratory Analysis
Standard blood draw procedure.
Report Delivery
Sample sent to laboratory for NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose ELOVL4 Gene Ichthyosis, Spastic Quadriplegia, and Mental Retardation through genetic analysis.
How to Prepare
- Patient should provide detailed clinical history.
- Genetic counseling session is required before testing.
- Sample can be blood, extracted DNA, or blood on FTA card.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of ELOVL4-related disorders is essential for managing symptoms and providing appropriate care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient sample volume
Understanding Your Results
If symptoms such as dry skin, movement difficulties, or intellectual disabilities are present, or if there is a family history of the disorder.
Limitations
- ⚠May not detect all types of mutations
- ⚠Results require genetic counseling interpretation
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection.
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
Frequently Asked Questions
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Reference Laboratory Services
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