SOX11 Gene Mental retardation, autosomal dominant type 27 NGS Genetic Test
Short Name: SOX11 MRD27 NGS Genetic Test
Also known as: SOX11 Gene Sequencing, SOX11 Mutation Analysis, MRD27 NGS Genetic Test, SOX11 Single-Gene NGS Test
SOX11 Gene Mental retardation, autosomal dominant type 27 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 issued 3 to 4 weeks after the sample reaches the laboratory.. 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
This test confirms or excludes a diagnosis of SOX11-related autosomal dominant intellectual disability type 27 (MRD27). It helps guide medical management, surveillance, prognostication, recurrence-risk counselling and informed family planning decisions.
- Test Code
- 4243
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Reports are issued 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
Genetic counselling session is recommended before the test. A detailed clinical history and pedigree chart of family members should be prepared. No fasting is required for this test.
Method: Peripheral blood draw / FTA card blood spot / extracted DNA submission
Laboratory Analysis
A small amount of blood will be collected by venepuncture. If an FTA card is used, one drop of blood is placed on the marked circle and allowed to dry before packaging.
Report Delivery
There are no dietary or activity restrictions after sample collection. The sample should be transported to the laboratory according to the instructions provided.
Timeline: Reports are issued 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
This test confirms or excludes a diagnosis of SOX11-related autosomal dominant intellectual disability type 27 (MRD27). It helps guide medical management, surveillance, prognostication, recurrence-risk counselling and informed family planning decisions.
How to Prepare
- No fasting required.
- Carry the filled test requisition form with clinical history and family pedigree information.
- For blood: use an EDTA vacutainer labelled with the patient's name and date of collection.
- For FTA card: apply one drop of blood on the pre-printed circle and air-dry completely.
- Transport at ambient room temperature as recommended at the time of booking.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"The SOX11 gene is important for normal brain development. If NGS identifies a pathogenic SOX11 variant, the diagnosis is molecularly confirmed and genetic counselling should be offered to the family for recurrence-risk assessment. A negative result does not exclude all genetic causes of intellectual disability."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Unlabelled or mislabelled samples
- Inadequate sample quantity or insufficient extracted DNA
- Clotted or grossly haemolysed blood when DNA quality is compromised
- Incomplete requisition form without clinical indication or signed consent
Understanding Your Results
Pathogenic or likely pathogenic variant detected
Molecular confirmation of MRD27 caused by a SOX11 variant.
Recommendation: Clinical correlation, multidisciplinary review and genetic counselling are recommended.
Variant of uncertain significance detected
A SOX11 sequence change is present but its clinical significance is not yet established.
Recommendation: Family segregation studies and further clinical evaluation may be required.
No pathogenic variant detected
No SOX11 sequence variant considered pathogenic was identified.
Recommendation: Other genetic or non-genetic causes of intellectual disability should be considered.
Incidental or secondary finding
Reported only when clinically actionable and consented as per laboratory policy.
Recommendation: Discuss with a clinical geneticist and relevant specialist.
If you or your child has unexplained intellectual disability, global developmental delay, delayed speech, seizures, behavioural difficulties or a family history of SOX11-related disorder, consult a clinical geneticist, paediatric neurologist or genetic counsellor for evaluation and testing.
Limitations
- ⚠Targeted single-gene NGS may not detect large structural rearrangements, some deep intronic variants or regulatory region variants in SOX11.
- ⚠A negative result does not exclude all genetic and non-genetic causes of intellectual disability.
- ⚠Variants of uncertain significance may require segregation testing and further functional evidence before clinical classification.
- ⚠Results should be interpreted by a qualified clinical geneticist in the context of the individual's clinical presentations and family history.
Risks & Considerations
- ●No significant physical risks are associated with routine blood collection beyond mild pain, bruising or very rare infection at the puncture site.
- ●The genetic test result may have psychological and emotional implications for the patient and family.
- ●Genetic test results may have implications for biological family members, especially in autosomal dominant conditions.
Interfering Factors
- ●Poor quality or degraded DNA
- ●Insufficient quantity of extracted DNA
- ●Very low-level mosaicism may be below the detection limit of NGS
- ●Incorrect clinical indication or incomplete family history
- ●Variants located outside the targeted sequencing regions
Compare With Similar Tests
| Test | SOX11 Gene Mental retardation, autosomal dominant type 27 NGS Genetic Test | SOX11 gene single-gene NGS | SOX11 gene single-gene NGS | SOX11 gene single-gene NGS |
|---|---|---|---|---|
| Comparison | SOX11 Gene Mental retardation, autosomal dominant type 27 NGS Genetic Test |
Frequently Asked Questions
What is SOX11 gene and how is it related to intellectual disability?
What does autosomal dominant type 27 (MRD27) mean?
Which symptoms are associated with SOX11 gene variants?
How is SOX11 gene MRD27 diagnosed?
What is the cost of SOX11 gene NGS genetic test in India?
Is fasting required for this test?
What type of sample is accepted for the test?
How long does it take to get the report?
Does a normal SOX11 test completely rule out MRD27?
Will I receive raw data files with the report?
If a pathogenic SOX11 variant is found, what does it mean for family members?
Why is genetic counselling required before this test?
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