RAB27A Gene Griscelli syndrome type 2 NGS Genetic Test
Short Name: RAB27A GS2 NGS Test
Also known as: Silvery Hair Syndrome, Griscelli Syndrome Type 2 (GS2)
RAB27A Gene Griscelli 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 usually available within 3 to 4 weeks after the sample is received at the laboratory. In some cases, additional time may be required for result confirmation.. 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 a clinical diagnosis of Griscelli syndrome type 2 and identify pathogenic variants in the RAB27A gene using Next Generation Sequencing technology.
- Test Code
- 4112
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are usually available within 3 to 4 weeks after the sample is received at the laboratory. In some cases, additional time may be required for result confirmation.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. Genetic counselling is recommended prior to testing.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
Blood sample is drawn by a trained phlebotomist. For FTA card, a few drops of blood are placed on the card and allowed to dry.
Report Delivery
No specific precautions. You may resume normal activities immediately.
Timeline: Reports are usually available within 3 to 4 weeks after the sample is received at the laboratory. In some cases, additional time may be required for result confirmation.
About This Test
Who Should Get This Test
To confirm a clinical diagnosis of Griscelli syndrome type 2 and identify pathogenic variants in the RAB27A gene using Next Generation Sequencing technology.
How to Prepare
- Avoid sample contamination by ensuring a clean collection site.
- FTA card samples must be dried completely before packaging.
- Clearly label the sample with patient name and unique ID.
- Transport at ambient temperature for blood and FTA cards; extracted DNA should be shipped on ice or cold packs.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic confirmation of Griscelli syndrome type 2 is essential for initiating timely treatment and providing accurate reproductive counselling to affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolysed sample
- Clotted sample
- Insufficient quantity of blood or DNA
- Improperly labelled sample
- Suspected sample mix-up
Understanding Your Results
Positive (pathogenic variant)
Confirms a molecular diagnosis of Griscelli syndrome type 2. Clinical correlation and family segregation studies are recommended.
Positive (likely pathogenic variant)
Highly suggestive of Griscelli syndrome type 2; additional evidence may be required for full classification.
Negative
No clinically significant variants detected in the RAB27A gene. Other genetic causes of silvery hair syndrome should be considered.
VUS (Variant of Uncertain Significance)
The variant is not clearly classified as pathogenic or benign. Further family studies or functional analyses may be helpful.
If you or your child have silvery or grey hair, unusual light skin and eye colour, recurrent infections, neurological delay, or a family history of Griscelli syndrome, consult a clinical geneticist or immunologist for evaluation and genetic testing.
Limitations
- ⚠NGS may not detect large deletions/duplications, deep intronic variants, or structural variants
- ⚠Variants in low-complexity or high GC-rich regions may be missed
- ⚠Results should be interpreted in the context of clinical findings
- ⚠Sanger sequencing may be required to confirm clinically significant variants
Risks & Considerations
- ●Blood collection may cause minor bruising, bleeding, or rarely infection
- ●FTA card collection is minimally invasive and poses negligible risk
- ●Genetic testing may uncover findings with psychological or family implications
Interfering Factors
- ●Recent bone marrow transplantation may interfere with germline genetic testing
- ●Maternal cell contamination in prenatal samples
- ●Contamination during DNA extraction or amplification
Frequently Asked Questions
What is Griscelli syndrome type 2?
How is this NGS test different from targeted mutation analysis?
What is the cost of the RAB27A gene Griscelli syndrome type 2 NGS test?
What sample is needed for the test?
How long does it take to get results?
Do I need to fast before the test?
Will I receive the raw sequencing data with my report?
What does a positive test result mean?
What does a negative test result mean?
Can this test be used for prenatal diagnosis?
Does health insurance cover this test?
Who should undergo this test?
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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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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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