RAB3GAP2 Gene Warburg micro syndrome type 2 NGS Genetic Test
Short Name: RAB3GAP2 NGS Test
Also known as: WARBM2 Genetic Test, RAB3GAP2 Mutation Analysis, Micro Syndrome Type 2 NGS Panel
RAB3GAP2 Gene Warburg micro syndrome type 2 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 reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm or rule out a diagnosis of Warburg Micro Syndrome Type 2 by detecting mutations in the RAB3GAP2 gene. It aids in genetic counseling, family planning, and clinical management of affected individuals.
- Test Code
- 5982
- CPT Code
- 81407
- ICD Code
- Q87.89
- 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 reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No specific aftercare is needed. The sample will be transported to the laboratory for analysis.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm or rule out a diagnosis of Warburg Micro Syndrome Type 2 by detecting mutations in the RAB3GAP2 gene. It aids in genetic counseling, family planning, and clinical management of affected individuals.
How to Prepare
- Ensure the patient's identity is verified with a valid ID.
- For blood collection, use an EDTA tube and mix gently.
- For FTA card, apply one drop of blood onto the designated circle and allow to air dry.
- Label the sample with patient name, date, and unique ID.
- Transport the sample to the lab within 24 hours if possible.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for Warburg Micro Syndrome Type 2 is crucial for accurate diagnosis and family planning. Early identification allows for timely supportive care and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or missing requisition form
- Sample received after prolonged storage without proper temperature
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Warburg Micro Syndrome Type 2. Genetic counseling is recommended for the family.
Likely pathogenic variant detected
Highly suggestive of the condition; further testing may be needed for confirmation.
Variant of uncertain significance (VUS)
Cannot be definitively classified; additional family studies or functional assays may be required.
No pathogenic variant detected
No mutation found in RAB3GAP2; consider other genetic causes if symptoms persist.
Consult a geneticist or pediatric neurologist if your child shows developmental delay, seizures, visual impairment, or other features suggestive of Warburg Micro Syndrome. Also, if you have a family history of the condition, genetic counseling is advised before testing.
Limitations
- ⚠This test only analyzes the RAB3GAP2 gene; mutations in other genes (e.g., RAB3GAP1) may cause similar syndromes and are not detected.
- ⚠Large deletions/duplications may not be detected 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 predict severity or progression of the disease.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for finding variants of uncertain significance
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare genetic variants of uncertain significance may require additional testing
Compare With Similar Tests
| Test | RAB3GAP2 Gene Warburg micro syndrome type 2 NGS Genetic Test | RAB3GAP1 Gene Sequencing | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | RAB3GAP2 Gene Warburg micro syndrome type 2 NGS Genetic Test | RAB3GAP1 mutations cause Warburg Micro Syndrome Type 1. This test is similar but targets a different gene. Both are autosomal recessive. | WES analyzes all coding regions of the genome and may detect mutations in RAB3GAP2 as well as other genes. It is more comprehensive but costlier and may have longer turnaround time. | CMA detects copy number variations (deletions/duplications) but does not detect single nucleotide variants. It is not specific for RAB3GAP2. |
Frequently Asked Questions
What is Warburg Micro Syndrome Type 2?
How is this test performed?
What is the cost of the test?
How long does it take to get results?
Is fasting required before the test?
What sample is needed?
Can this test be done on children?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included?
Is home sample collection available?
Are there any risks associated with the test?
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