SOBP Gene Mental retardation, anterior maxillary protrusion, and strabismus NGS Genetic Test
Short Name: SOBP Gene NGS Test
Also known as: SOBP Gene Mutation Test, SOBP Sequencing, SOBP Gene Intellectual Disability Panel
SOBP Gene Mental retardation, anterior maxillary protrusion, and strabismus NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in The report is delivered in 3 to 4 weeks after 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
The purpose of this NGS genetic test is to identify pathogenic variants in the SOBP gene that cause an autosomal recessive or dominant form of intellectual disability associated with anterior maxillary protrusion and strabismus. Testing helps confirm the clinical diagnosis, guide management, and allow for recurrence risk counseling.
- Test Code
- 4223
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The report is delivered in 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- NGS (Next Generation Sequencing)
Sample Collection
No fasting or special preparation is required. Kindly carry any previous medical records, MRI reports, or genetic counseling documents, if available.
Method: Venipuncture or heel/finger prick on FTA card
Laboratory Analysis
A small amount of blood will be drawn from the arm into an EDTA vacutainer. Alternatively, a drop of blood will be collected from a finger/heel prick onto an FTA card.
Report Delivery
You can resume normal activities immediately. Press the collection site for a few minutes to prevent bruising. If using FTA card, let the blood spot dry naturally and keep it in the provided pouch.
Timeline: The report is delivered in 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify pathogenic variants in the SOBP gene that cause an autosomal recessive or dominant form of intellectual disability associated with anterior maxillary protrusion and strabismus. Testing helps confirm the clinical diagnosis, guide management, and allow for recurrence risk counseling.
How to Prepare
- No food restriction is needed
- Verify the patient's identity and clinical indication
- For FTA card, ensure that the blood spot completely saturates the printed circle
- Label the sample tube/card with patient's full name, date of birth, and collection date
- Store FTA card in a clean, dry place until shipment
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing provides a definitive answer, enabling families to understand the cause of developmental delay and make informed reproductive decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted sample
- Hemolysed blood sample
- Insufficient sample volume
- Incorrectly labelled sample
- Sample received in formalin container
Understanding Your Results
Pathogenic variant identified
Molecular diagnosis of SOBP-related disorder is confirmed.
Action: Clinical genetic counseling, management of associated symptoms, and offer family segregation testing.
Likely pathogenic variant identified
The variant is likely disease-causing; clinical correlates support diagnosis.
Action: One-year re-evaluation of the variant and clinical correlation recommended.
Variant of uncertain significance (VUS)
The variant is not classified as pathogenic; its clinical meaning is unclear.
Action: Further testing, parental studies, and phenotypic comparison recommended.
No pathogenic variant identified
No disease-causing variant in SOBP gene was found.
Action: Consider whole exome sequencing or chromosomal microarray for alternative causes.
If a child or adult shows these signs - intellectual disability, protruding upper jaw/overbite, and strabismus - it is advisable to consult a clinical geneticist or neurologist for a thorough evaluation and genetic testing.
Limitations
- ⚠This test detects mutations in SOBP gene only; other genetic causes of similar phenotype are not evaluated
- ⚠Mosaic variants below 10-20% allele fraction may not be detected
- ⚠Large deletions/duplications involving SOBP may require additional testing
- ⚠Regulatory region variants and deep intronic variants are not covered
- ⚠Interpretation may be impacted by incomplete phenotype description
Risks & Considerations
- ●Minimal pain or bruising at the site of blood draw
- ●Rare infection
- ●Psychological impact of receiving a genetic diagnosis
Interfering Factors
- ●Recent allogeneic blood transfusion (within 7 days) may dilute patient DNA
- ●Bone marrow transplantation may cause mixed DNA profiles
- ●Contamination with another person's blood
- ●Presence of maternal cell contamination in newborn samples
Compare With Similar Tests
| Test | SOBP Gene Mental retardation, anterior maxillary protrusion, and strabismus NGS Genetic Test | Whole Exome Sequencing | Chromosomal Microarray |
|---|---|---|---|
| Comparison | SOBP Gene Mental retardation, anterior maxillary protrusion, and strabismus NGS Genetic Test | Covers all genes, may identify cause in 30-50% of unexplained intellectual disability. | Detects copy number changes, but not single-nucleotide variants in SOBP. |
Frequently Asked Questions
What is the SOBP gene?
How is the SOBP gene test performed?
Do I need to fast before the SOBP gene test?
What sample is needed?
How long does it take to get the report?
What is the cost of the test?
Will I receive raw data?
Are there any risks?
Can this test detect all genetic causes of intellectual disability?
Who should order this test?
How do I book the test?
Is genetic counseling available?
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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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