ELK1 Gene Mental retardation non-syndromic NGS Genetic Test
Short Name: ELK1 Gene NGS Test
Also known as: ELK1 Gene Sequencing Test, Non-syndromic Intellectual Disability Genetic Test, ELK1 Mutation Analysis
ELK1 Gene Mental retardation non-syndromic 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 Results available in 3 to 4 weeks from sample receipt.. 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 identify pathogenic mutations in the ELK1 gene associated with non-syndromic mental retardation, aiding in diagnosis, management, and genetic counseling.
- Test Code
- 1679
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results available in 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide complete clinical history and undergo genetic counseling to draw a pedigree chart. No fasting is required.
Method: Venipuncture or FTA card application
Laboratory Analysis
Blood sample collected via venipuncture or one drop applied to an FTA card. Ambient room temperature preparation.
Report Delivery
Sample labeled and transported to the lab under stable conditions. Avoid hemolysis or contamination.
Timeline: Results available in 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the ELK1 gene associated with non-syndromic mental retardation, aiding in diagnosis, management, and genetic counseling.
How to Prepare
- No fasting required
- Ensure proper labeling of samples
- Provide informed consent and clinical history
- Maintain sample integrity during transport
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This genetic test is essential for diagnosing non-syndromic mental retardation linked to ELK1 gene mutations, aiding in early intervention and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect sample labeling or missing documentation
- Contaminated samples
Understanding Your Results
Pathogenic mutation detected
Confirms genetic etiology for non-syndromic mental retardation; recommend genetic counseling and tailored interventions.
Likely pathogenic variant found
Suggests high probability of genetic cause; further clinical evaluation advised.
Variant of uncertain significance
Unclear clinical impact; consider additional testing or family studies.
Likely benign or benign variant
No significant genetic association found; symptoms may be due to other causes.
No mutations detected
ELK1 gene mutations not identified; explore other diagnostic avenues.
Consult a healthcare provider if symptoms persist, worsen, or if there is a family history of intellectual disability for genetic counseling and management.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or duplications
- ⚠Results require clinical correlation and genetic counseling
- ⚠False negatives possible in rare cases
- ⚠Limited to ELK1 gene analysis only
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results; counseling available
Interfering Factors
- ●Sample contamination during collection or processing
- ●Degraded DNA due to improper storage
- ●Insufficient sample volume or quality
- ●Technical errors in sequencing
Compare With Similar Tests
| Test | ELK1 Gene Mental retardation non-syndromic NGS Genetic Test | FMR1 Gene Fragile X Syndrome Test | MECP2 Gene Rett Syndrome Test | SHANK3 Gene Autism Spectrum Disorder Test | Whole Exome Sequencing |
|---|---|---|---|---|---|
| Comparison | ELK1 Gene Mental retardation non-syndromic NGS Genetic Test | Focuses on FMR1 gene for Fragile X syndrome, a common genetic cause of intellectual disability with syndromic features. | Targets MECP2 gene for Rett syndrome, which includes developmental regression and neurological symptoms. | Analyzes SHANK3 gene linked to autism spectrum disorder and intellectual disability. | Comprehensive test covering all genes, broader than single-gene analysis like ELK1. |
Frequently Asked Questions
What is the ELK1 Gene Mental Retardation Non-Syndromic NGS Genetic Test?
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Can this test diagnose other conditions?
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