RAB3GAP2 Gene Martsolf syndrome NGS Genetic Test
Short Name: RAB3GAP2 NGS
Also known as: RAB3GAP2 gene test, Martsolf syndrome genetic test, NGS genetic test for Martsolf syndrome
RAB3GAP2 Gene Martsolf syndrome 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 sample receipt.. 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 detect mutations in the RAB3GAP2 gene that cause Martsolf syndrome. It aids in confirming a clinical diagnosis, differentiating from other similar genetic conditions, and providing information for recurrence risk assessment and family planning.
- Test Code
- 5831
- 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 available within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended to draw a pedigree chart and discuss the implications of the test.
Method: Venipuncture or finger prick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple finger prick is sufficient.
Report Delivery
No specific aftercare needed. The sample will be sent to the laboratory for analysis.
Timeline: Reports are typically available 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 detect mutations in the RAB3GAP2 gene that cause Martsolf syndrome. It aids in confirming a clinical diagnosis, differentiating from other similar genetic conditions, and providing information for recurrence risk assessment and family planning.
How to Prepare
- Ensure the patient's identity is verified
- Use sterile EDTA vacutainer for blood collection
- For FTA card, apply one drop of blood on the designated circle
- Label the sample with patient's name and unique ID
- Transport sample at ambient temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Martsolf syndrome is a rare autosomal recessive disorder. Early genetic confirmation is crucial for management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrect labeling
- Sample received after prolonged transit time (>72 hours)
Understanding Your Results
Positive (pathogenic variant)
Confirms diagnosis of Martsolf syndrome. Genetic counseling recommended for family.
Negative (no variant)
Reduces likelihood of Martsolf syndrome. Consider other genetic causes.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed to clarify significance.
If the test result is positive, or if you have concerns about your child's development, consult a clinical geneticist or pediatric neurologist for comprehensive management and counseling.
Limitations
- ⚠NGS may not detect large genomic rearrangements or deep intronic variants
- ⚠Variant of uncertain significance (VUS) may require further analysis
- ⚠Test does not assess other genes associated with similar phenotypes
- ⚠Results should be interpreted in the context of clinical findings
Risks & Considerations
- ●Minimal risk of bruising at blood draw site
- ●Psychological impact of genetic results
- ●Potential for VUS results causing uncertainty
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Incomplete clinical information
- ●Presence of large deletions/duplications not detected by standard NGS
Compare With Similar Tests
| Test | RAB3GAP2 Gene Martsolf syndrome NGS Genetic Test | Whole Exome Sequencing | Targeted Mutation Analysis | Chromosomal Microarray |
|---|---|---|---|---|
| Comparison | RAB3GAP2 Gene Martsolf syndrome NGS Genetic Test | WES covers all coding regions of genes, while this test focuses specifically on RAB3GAP2. WES is more comprehensive but costlier. | Targeted analysis looks for known familial mutations, whereas NGS detects novel variants as well. | CMA detects copy number variations, not point mutations. This test is specific for sequence changes in RAB3GAP2. |
Frequently Asked Questions
What is Martsolf syndrome?
How is Martsolf syndrome diagnosed?
What is the cost of the RAB3GAP2 gene test in India?
What sample is required for this test?
Is fasting required before the test?
How long does it take to get the results?
Is home sample collection available?
What does a positive test result mean?
Can this test be used for prenatal diagnosis?
Are there any risks associated with the test?
Will insurance cover the cost?
What is the role of genetic counseling?
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