EPB41L1 Gene Mental retardation, autosomal dominant type 11 NGS Genetic Test
Short Name: EPB41L1 NGS Genetic Test
Also known as: EPB41L1 Gene Mutation Test, MRD11 Genetic Test, EPB41L1 NGS Panel, EPB41L1 Intellectual Disability Genetic Test
EPB41L1 Gene Mental retardation, autosomal dominant type 11 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger sequencing for variant confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Samples are processed within 3 to 4 weeks from the date of sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The primary purpose of this NGS genetic test is to identify pathogenic variants in the EPB41L1 gene in individuals presenting with intellectual disability or developmental delay. Confirmation of a genetic etiology assists clinicians in establishing a definitive diagnosis of MRD11, offering prognostic information, enabling appropriate supportive care, and informing family members about recurrence risks. Additionally, it helps in differentiating MRD11 from other overlapping neurodevelopmental disorders.
- Test Code
- 4225
- CPT Code
- 81419
- ICD Code
- F70-F79
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Samples are processed within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger sequencing for variant confirmation
Sample Collection
No special preparation or fasting is required. Provide a detailed clinical history and family pedigree if available. A genetic counseling session is recommended prior to testing.
Method: Blood draw / Buccal swab / FTA card spot
Laboratory Analysis
Blood sample will be collected in an EDTA vacutainer. If using FTA card, a drop of blood will be placed on the card. Buccal swabs may be collected as per procedure.
Report Delivery
No post-collection restrictions apply. The sample will be transported to the laboratory for processing. Results will be released after 3 to 4 weeks.
Timeline: Samples are processed within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to identify pathogenic variants in the EPB41L1 gene in individuals presenting with intellectual disability or developmental delay. Confirmation of a genetic etiology assists clinicians in establishing a definitive diagnosis of MRD11, offering prognostic information, enabling appropriate supportive care, and informing family members about recurrence risks. Additionally, it helps in differentiating MRD11 from other overlapping neurodevelopmental disorders.
How to Prepare
- Fasting is not required
- Inform the laboratory about any recent blood transfusions
- For FTA card, do not touch the marked area
- For extracted DNA, ship in appropriate buffer on dry ice
- Sample must be labeled correctly with patient name and unique ID
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for MRD11 is vital for families with intellectual disability. Confirm the diagnosis to enable recurrence risk counselling and early intervention."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample quantity
- Sample not labelled or mislabeled
- Sample received in broken or leaking container
- FTA card contaminated or stained improperly
Understanding Your Results
No pathogenic variant detected
No clinically significant mutation in EPB41L1 was identified. This does not rule out MRD11 due to other genes or non-genetic causes.
Pathogenic variant detected
The test identified a disease-causing variant in EPB41L1, confirming a diagnosis of autosomal dominant mental retardation type 11.
Likely pathogenic variant detected
A variant highly likely to cause MRD11 is present. Further family testing may be recommended.
Variant of uncertain significance (VUS)
A variant was found, but its clinical significance is unclear. Additional testing of family members may help clarify.
Consult a geneticist or neurologist if you or your child show signs of developmental delay, intellectual disability, speech delay, or have a family history of autosomal dominant intellectual disability. Genetic counseling is advised for all families undergoing or considering this test.
Limitations
- ⚠NGS may not detect large genomic deletions, duplications, or dynamic mutations with high sensitivity
- ⚠Potential inability to detect variants in non-coding regions or deep intronic areas
- ⚠Variants of uncertain significance (VUS) may require further family studies
- ⚠Test does not assess for methylation defects or uniparental disomy
- ⚠Negative result does not exclude other genetic or non-genetic causes of intellectual disability
Risks & Considerations
- ●No significant risks associated with blood draw
- ●Mild pain or bruising at the puncture site in rare cases
- ●Psychological impact of a positive genetic diagnosis
Interfering Factors
- ●Contamination of sample with external DNA
- ●Inadequate DNA quantity or quality
- ●Rare intronic or regulatory variants not covered by NGS
- ●Mosaicism may lead to false negative results
- ●Consanguinity or complex genetic background
Frequently Asked Questions
What is EPB41L1 gene related intellectual disability?
Who should undergo this EPB41L1 NGS genetic test?
What is the cost of the EPB41L1 gene NGS test at DNA Labs India?
What type of sample is required for the test?
Do I need to fast before the test?
How long does the test take to produce results?
Can home sample collection be arranged?
Does this test detect all mutations in the EPB41L1 gene?
Will this test give a definite diagnosis in all cases?
Is genetic counseling included in the test price?
Can this test be done for prenatal diagnosis?
How is the test result delivered?
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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