RAB3GAP1 Gene Warburg micro syndrome type 1 NGS Genetic Test
Short Name: RAB3GAP1 NGS Test
Also known as: WARBM1 Genetic Test, RAB3GAP1 Mutation Analysis, Micro Syndrome Type 1 NGS Panel
RAB3GAP1 Gene Warburg micro syndrome type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically delivered within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
The purpose of this test is to identify mutations in the RAB3GAP1 gene that cause Warburg Micro Syndrome Type 1. It aids in confirming diagnosis in symptomatic individuals, differentiating from other microcephaly syndromes, and providing information for recurrence risk assessment and family planning.
- Test Code
- 5981
- CPT Code
- 81407
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger confirmation
Sample Collection
No special preparation required. However, a genetic counseling session is recommended before the test to discuss implications.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick blood spot is taken.
Report Delivery
No restrictions. Patient can resume normal activities immediately.
Timeline: Reports are typically delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the RAB3GAP1 gene that cause Warburg Micro Syndrome Type 1. It aids in confirming diagnosis in symptomatic individuals, differentiating from other microcephaly syndromes, and providing information for recurrence risk assessment and family planning.
How to Prepare
- For blood sample: Use EDTA tube, mix gently, and store at room temperature until shipment.
- For FTA card: Apply blood spots, air dry for 1 hour, and place in provided envelope.
- Label the sample with patient name, date of birth, and collection date.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis of Warburg Micro Syndrome is crucial for management and family counseling. This NGS test provides definitive identification of RAB3GAP1 mutations."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit without proper storage
Understanding Your Results
Positive (pathogenic variant detected)
Confirms diagnosis of Warburg Micro Syndrome Type 1. Autosomal recessive inheritance; both parents are carriers. Genetic counseling recommended.
Negative (no pathogenic variant detected)
No mutation found in RAB3GAP1. Other genetic causes should be considered. Clinical correlation advised.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further family testing and functional studies may be needed.
Consult a clinical geneticist or pediatric neurologist if the test is positive or if symptoms persist despite negative results. Genetic counseling is recommended for all families.
Limitations
- ⚠This test detects mutations in the coding regions and splice sites of RAB3GAP1; deep intronic or regulatory region mutations may not be detected.
- ⚠Large deletions/duplications may not be identified by standard NGS; additional testing may be required.
- ⚠Variant of uncertain significance (VUS) may be reported; further family studies may be needed.
- ⚠Test does not rule out other genetic causes of similar phenotypes.
Risks & Considerations
- ●Minimal risk of bruising or infection at blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings (unrelated to the test)
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Recent blood transfusion (may dilute DNA)
- ●Bone marrow transplant (chimerism)
Compare With Similar Tests
| Test | RAB3GAP1 Gene Warburg micro syndrome type 1 NGS Genetic Test | Whole Exome Sequencing | Chromosomal Microarray (CMA) | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | RAB3GAP1 Gene Warburg micro syndrome type 1 NGS Genetic Test | WES covers all coding regions of all genes, while this test is targeted to RAB3GAP1 only. WES is more comprehensive but costlier and may have incidental findings. | CMA detects copy number variations (deletions/duplications) but not point mutations. This NGS test is specific for sequence variants in RAB3GAP1. | Sanger is used for confirmation of specific variants, but NGS is more efficient for full gene analysis. This test includes Sanger confirmation. |
Frequently Asked Questions
What is Warburg Micro Syndrome Type 1?
How is this test performed?
What is the cost of the test?
Do I need to fast before the test?
How long does it take to get results?
Can this test be done on children?
What does a positive result mean?
What does a negative result mean?
Is home sample collection available?
Will insurance cover this test?
Can this test be used for prenatal diagnosis?
What is the difference between this test and whole exome sequencing?
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₹20,000Reference Laboratory Services
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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