GPC3 Gene Simpson-Golabi-Behmel syndrome type 1 NGS Genetic Test
Short Name: GPC3 SGBS1 NGS
Also known as: SGBS1 Genetic Test, GPC3 Mutation Analysis, Simpson-Golabi-Behmel Syndrome Type 1 DNA Test, GPC3 NGS, Glypican 3 Gene Test
GPC3 Gene Simpson-Golabi-Behmel syndrome 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 Reports are typically available within 3 to 4 weeks after the sample is received at 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
The purpose of this test is to identify disease-causing variants in the GPC3 gene in individuals with clinical features of Simpson-Golabi-Behmel syndrome type 1 and to confirm a suspected diagnosis. It is also useful for carrier detection in at-risk female relatives and for providing recurrence-risk information for family planning.
- Test Code
- 4503
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counselling session should be done before the test to document clinical history and draw a pedigree chart of family members affected with GPC3-related Simpson-Golabi-Behmel syndrome type 1. Please carry previous genetic test reports and clinical notes, if available.
Method: Peripheral venous blood collection / dried blood spot on FTA card / extracted DNA submission
Laboratory Analysis
Blood is collected by a trained phlebotomist. If an FTA blood spot is being used, one drop of blood is placed on the marked circles and allowed to air dry completely before packaging.
Report Delivery
You can resume normal activities immediately after collection. The sample is securely transported to the DNA Labs India laboratory for processing and analysis.
Timeline: Reports are typically available within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify disease-causing variants in the GPC3 gene in individuals with clinical features of Simpson-Golabi-Behmel syndrome type 1 and to confirm a suspected diagnosis. It is also useful for carrier detection in at-risk female relatives and for providing recurrence-risk information for family planning.
How to Prepare
- Pre-test genetic counseling: clinical history and pedigree chart of family members affected with GPC3-related SGBS1 should be documented.
- Use an EDTA tube for venous blood or the provided FTA card for blood spot collection.
- Label the sample with patient name, ID, date, and time of collection.
- For FTA cards, let the blood spot dry thoroughly before placing it in the protective pouch.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"If the clinical phenotype is strongly suggestive of an overgrowth syndrome, targeted GPC3 testing is an appropriate first-line molecular test. However, if the GPC3 result is negative, a broader next-generation sequencing-based overgrowth panel should be considered to look for other genetic causes. Referral to a clinical geneticist for pre-test counselling is essential, especially when results may affect reproductive decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Unlabelled or mislabelled sample
- Improperly dried or contaminated FTA card
- Insufficient DNA quantity or low-quality DNA
Understanding Your Results
Pathogenic or likely pathogenic variant detected in GPC3
Supports a diagnosis of SGBS1 in males and carrier status in females. Genetic counselling and family testing are recommended.
No pathogenic variant detected
Reduces the likelihood of GPC3-related SGBS1 but does not rule out the condition. Other overgrowth syndromes may need evaluation.
Variant of uncertain significance (VUS)
Not sufficient for a definitive clinical diagnosis. Additional family segregation studies and further evidence may be required.
If the test identifies a pathogenic or likely pathogenic variant, or if clinical symptoms remain suggestive of SGBS1 despite a negative result, consult a clinical geneticist or the referring specialist for personalised management and surveillance.
Limitations
- ⚠This test detects sequence variants in the coding and splice-site regions of GPC3; large deletions or duplications may not be identified.
- ⚠Deep intronic variants, regulatory region variants, and some mosaic low-level variants may be missed.
- ⚠A negative result does not exclude SGBS1 if clinical features are strong; other genes should be considered.
- ⚠Interpretation of variants of uncertain significance may require additional family studies.
Risks & Considerations
- ●Mild pain, discomfort, or bruising at the blood collection site
- ●Rarely, infection or excessive bleeding after venipuncture
- ●No direct physical risks from the genetic test itself, but psychological and emotional implications may occur and should be addressed with counselling
Interfering Factors
- ●Allogeneic bone marrow transplantation can lead to donor-derived DNA and inaccurate results
- ●Recent blood transfusion may cause mixed DNA in some situations
- ●Degraded or insufficient DNA can affect sequencing quality
- ●Sample contamination during collection or processing may interfere with results
Compare With Similar Tests
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| Comparison | GPC3 Gene Simpson-Golabi-Behmel syndrome type 1 NGS Genetic Test |
Frequently Asked Questions
What is the GPC3 gene test for Simpson-Golabi-Behmel syndrome type 1?
Who should get this GPC3 NGS test?
What is the cost of the test?
What type of sample is accepted?
Is fasting required before the test?
How long will it take to get reports?
What is next-generation sequencing (NGS)?
Can a negative GPC3 test rule out Simpson-Golabi-Behmel syndrome type 1?
What if a variant of uncertain significance is found?
Can carrier females be tested with this test?
Why is genetic counselling recommended before testing?
Will I receive raw data files along with the report?
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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.
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