ARHGEF6 Gene Mental retardation, X-linked type 46 NGS Genetic Test
Short Name: ARHGEF6 NGS Test
Also known as: ARHGEF6 Genetic Test, X-linked Mental Retardation Type 46, ARHGEF6 Gene Sequencing
ARHGEF6 Gene Mental retardation, X-linked type 46 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 delivered within 3 to 4 weeks after the sample is received.. 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
To detect mutations in the ARHGEF6 gene that cause X-linked mental retardation type 46. This test helps confirm a clinical diagnosis, identify carriers, and guide genetic counseling and family planning.
- Test Code
- 4280
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after the sample is received.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Clinical history and pedigree chart are required. No fasting needed.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
Blood sample will be collected from the arm.
Report Delivery
No specific precautions. You may resume normal activities.
Timeline: Reports are delivered within 3 to 4 weeks after the sample is received.
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the ARHGEF6 gene that cause X-linked mental retardation type 46. This test helps confirm a clinical diagnosis, identify carriers, and guide genetic counseling and family planning.
How to Prepare
- Bring your prescription and clinical history.
- No special dietary preparation is required.
- Inform your doctor about any medications you are taking.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"As a physician specializing in reproductive health, I recommend genetic counseling and testing for families with suspected X-linked intellectual disability. This NGS test provides critical information for carrier detection, reproductive planning, and early intervention."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or improperly labeled samples.
- Samples collected in incorrect tubes.
Understanding Your Results
Positive for pathogenic variant
Confirms a molecular diagnosis of ARHGEF6-related intellectual disability. Genetic counseling and familial testing recommended.
Negative for pathogenic variant
No disease-causing variant was found in the ARHGEF6 gene. This does not exclude other genetic causes of intellectual disability.
Variant of uncertain significance (VUS)
A sequence change was found whose clinical significance is unclear. Additional family studies may be needed.
If you or your child experiences global developmental delay, intellectual disability, seizures, or any other symptoms listed, consult a neurologist or genetic specialist.
Limitations
- ⚠This test only analyzes the ARHGEF6 gene; mutations in other genes causing intellectual disability will not be identified.
- ⚠Variants of unknown significance may be reported.
- ⚠Genetic counseling is strongly recommended to interpret results.
Interfering Factors
- ●Poor quality DNA, hemolyzed blood, or sample contamination may affect NGS results.
- ●Sequence variants in non-coding regions may not be detected depending on assay design.
Compare With Similar Tests
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Frequently Asked Questions
What is ARHGEF6 gene mental retardation X-linked type 46?
What are the common symptoms of ARHGEF6 gene mental retardation?
How is ARHGEF6 related intellectual disability diagnosed?
Why is NGS genetic testing recommended for this condition?
What sample is required for this test?
Do I need to fast before the test?
What is the turnaround time for results?
Will my insurance cover this test?
Does the test help in understanding the inheritance pattern?
Can females be affected with X-linked type 46 mental retardation?
Is genetic counseling available at DNA Labs India?
How do I book this test?
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