IGBP1 Gene Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia NGS Genetic Test
Short Name: IGBP1 Gene NGS Test
Also known as: IGBP1 Gene Mutation Test, IGBP1 NGS Analysis, Corpus Callosum Agenesis with Intellectual Disability Genetic Test
IGBP1 Gene Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger confirmation for detected variants on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are released in 3 to 4 weeks after receipt of the sample.. 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 confirm or rule out a pathogenic variant in the IGBP1 gene in a person with clinical features suggestive of corpor callosum agenesis with intellectual disability, ocular coloboma and micrognathia. It aids in diagnosis, management, genetic counselling, and recurrence-risk assessment.
- Test Code
- 3986
- CPT Code
- NA
- ICD Code
- Q04.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are released in 3 to 4 weeks after receipt of the sample.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger confirmation for detected variants
Sample Collection
No fasting is required. A genetic counselling session is recommended to document the family history and draw a three-generation pedigree chart. Please bring available clinical records, neuroimaging reports, and prior genetic testing results.
Method: Peripheral blood draw or dried blood spot on FTA card
Laboratory Analysis
A peripheral blood sample will be collected in an EDTA vacutainer. If an FTA card is used, one drop of blood will be placed on the designated circle. The process usually takes only a few minutes.
Report Delivery
There are no post-test restrictions. The collected sample is transported to the laboratory at room temperature. The report will be released in 3 to 4 weeks.
Timeline: Reports are released in 3 to 4 weeks after receipt of the sample.
Patient Instructions
About This Test
Who Should Get This Test
To confirm or rule out a pathogenic variant in the IGBP1 gene in a person with clinical features suggestive of corpor callosum agenesis with intellectual disability, ocular coloboma and micrognathia. It aids in diagnosis, management, genetic counselling, and recurrence-risk assessment.
How to Prepare
- No fasting is required
- EDTA blood or FTA card should be used
- Ensure the sample is clearly labelled with the patient's name and date of birth
- Carry the completed requisition form and patient ID
- For FTA cards, let the blood spot air-dry completely before packing
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"The clinical presentation of agenesis of the corpus callosum with intellectual disability and ocular coloboma overlaps with several genetic syndromes. A precise molecular test is essential for accurate genetic counselling and reproductive planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolyzed sample
- Insufficient sample quantity
- Unlabelled or mislabelled sample
- FTA card with wet blood spots or visible contamination
- Improper transport causing sample degradation
Understanding Your Results
Pathogenic variant identified
Molecularly confirmed IGBP1-related disorder; suitable for targeted familial variant testing and reproductive counselling.
Likely pathogenic variant identified
High likelihood of disease causation; further family segregation studies are recommended to confirm.
Variant of uncertain significance reported
Insufficient evidence to classify the variant as pathogenic or benign; additional testing of family members may help.
No pathogenic/likely pathogenic variant identified
Does not exclude a genetic cause; further comprehensive testing or reanalysis may be considered.
You should consult a clinical geneticist or neurologist if the child has unexplained corpus callosum abnormality, developmental delay, epilepsy, coloboma, micrognathia, or if the genetic test report shows a variant requiring interpretation.
Limitations
- ⚠This single-gene test does not analyse other genes implicated in corpus callosum agenesis
- ⚠Large structural variants such as whole-gene deletions or duplications may not be detected
- ⚠Deep intronic variants and regulatory variants may be missed
- ⚠A variant of uncertain significance may be reported and require further family studies
Risks & Considerations
- ●Mild bruising at the puncture site
- ●Slight pain during blood collection
- ●Very rare risk of bleeding or infection from the venipuncture site
Interfering Factors
- ●Poor DNA quality or low DNA quantity
- ●Contamination during sample collection
- ●Recent allogeneic bone marrow transplantation
- ●Maternal cell contamination in blood samples from infants
Compare With Similar Tests
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| Comparison | IGBP1 Gene Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia NGS Genetic Test |
Frequently Asked Questions
What is the IGBP1 gene NGS genetic test?
Who should get this test?
Is fasting required before the IGBP1 gene test?
What sample is needed for this NGS genetic test?
What is the cost of the IGBP1 gene NGS genetic test at DNA Labs India?
How long does the IGBP1 gene NGS test report take?
What is Next Generation Sequencing (NGS)?
Does this test detect all causes of corpus callosum agenesis?
What does a variant of uncertain significance (VUS) mean?
Can a negative IGBP1 gene test exclude the condition?
Does DNA Labs India provide raw data with the genetic test report?
Can this test be used for prenatal diagnosis?
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