IQSEC2 Gene Mental retardation, X-linked type 1 NGS Genetic Test
Short Name: IQSEC2 Gene X-linked MR NGS Test
Also known as: X-linked mental retardation type 1, IQSEC2-related intellectual disability, X-linked intellectual disability 1
IQSEC2 Gene Mental retardation, X-linked type 1 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 identify pathogenic mutations in the IQSEC2 gene that cause X-linked intellectual disability, aiding in accurate diagnosis, carrier testing, genetic counseling, and guiding appropriate medical management and support strategies.
- Test Code
- 1688
- 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 detailed clinical history of the patient, including symptoms and family history, and undergo a genetic counseling session to draw a pedigree chart of affected family members.
Method: Venipuncture or finger-prick for FTA card
Laboratory Analysis
Blood sample collected via standard venipuncture or using a finger-prick for FTA card, following sterile procedures.
Report Delivery
Sample is properly labeled, stored at ambient room temperature, and transported to the laboratory under controlled conditions for analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the IQSEC2 gene that cause X-linked intellectual disability, aiding in accurate diagnosis, carrier testing, genetic counseling, and guiding appropriate medical management and support strategies.
How to Prepare
- Use sterile collection equipment to avoid contamination
- Label samples accurately with patient details
- Maintain ambient room temperature during storage and transport
- For FTA card, ensure proper application of blood drop
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS test is crucial for diagnosing X-linked intellectual disability caused by IQSEC2 mutations, enabling early intervention, family planning, and targeted genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improper labeling or identification errors
- Contaminated or degraded samples
Understanding Your Results
Positive
Pathogenic variant in IQSEC2 gene detected; confirms diagnosis of X-linked intellectual disability. Genetic counseling and management plans should be initiated.
Negative
No pathogenic variant detected in IQSEC2 gene. Clinical symptoms may be due to other genetic or non-genetic causes; further testing may be recommended.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown. Requires periodic re-evaluation and correlation with family studies.
If an individual exhibits symptoms of intellectual disability, such as delayed development, learning difficulties, or behavioral issues, or if there is a family history of X-linked conditions, consultation with a geneticist or neurologist is advised for appropriate testing and counseling.
Limitations
- ⚠May not detect all types of genetic variants, such as large deletions or duplications
- ⚠Results require interpretation by a genetic specialist and correlation with clinical symptoms
- ⚠Test does not cover other genes associated with intellectual disability unless specifically requested
Risks & Considerations
- ●Minimal risks associated with blood draw, such as bruising, infection, or discomfort
- ●Psychological impact of test results, requiring genetic counseling support
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient DNA quality or quantity
- ●Technical errors during NGS sequencing
- ●Presence of other genetic variants not related to IQSEC2
Frequently Asked Questions
What is the IQSEC2 Gene Mental retardation, X-linked type 1 NGS Genetic Test?
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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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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