APOE Gene Sea-blue histiocyte disease NGS Genetic Test
Short Name: APOE Sea-blue Histiocyte Disease NGS Test
Also known as: APOE Gene Mutation Test, Sea-blue Histiocyte Disease Genetic Test, APOE-related Sea-blue Histiocytosis
APOE Gene Sea-blue histiocyte disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. 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 diagnose sea-blue histiocyte disease by detecting mutations in the APOE gene using next-generation sequencing, enabling accurate identification and management of this rare genetic disorder.
- Test Code
- 5619
- Price
- ₹20,000
- Sample Type
- Blood, Extracted DNA, or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. Provide clinical history and undergo genetic counseling to draw a pedigree chart.
Method: Blood draw via venipuncture or saliva collection
Laboratory Analysis
A blood sample will be drawn via venipuncture, or a saliva sample or FTA card blood drop will be collected.
Report Delivery
Apply pressure to the puncture site if blood is drawn. Store samples as instructed for stability.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose sea-blue histiocyte disease by detecting mutations in the APOE gene using next-generation sequencing, enabling accurate identification and management of this rare genetic disorder.
How to Prepare
- Ensure proper identification and prescription
- Follow sample collection guidelines provided by the lab
- Avoid contamination during collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing is essential for accurate diagnosis of rare disorders like sea-blue histiocyte disease, enabling targeted management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or insufficient sample volume
- Improperly labeled or contaminated samples
- Samples not meeting stability requirements
Understanding Your Results
Positive for pathogenic APOE mutation
Confirms diagnosis of sea-blue histiocyte disease; recommend clinical management and genetic counseling.
Negative for pathogenic mutations
No mutations detected; consider other diagnoses if symptoms persist.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a healthcare provider if experiencing symptoms like hepatosplenomegaly, neurological issues, or anemia, or if there is a family history of the disease. Discuss test results with a genetic specialist for appropriate management.
Limitations
- ⚠May not detect all possible genetic variants
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal physical risks from blood draw
- ●Potential psychological impact of genetic results
- ●Risk of misinterpretation without genetic counseling
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Incorrect sample collection or storage
Compare With Similar Tests
| Test | APOE Gene Sea-blue histiocyte disease NGS Genetic Test | Sanger Sequencing | Biochemical Testing | Biopsy and Histology |
|---|---|---|---|---|
| Comparison | APOE Gene Sea-blue histiocyte disease NGS Genetic Test | NGS offers higher throughput and can detect multiple variants simultaneously, while Sanger is targeted but slower. | Genetic testing provides definitive diagnosis, whereas biochemical tests may indicate lipid abnormalities but not specific genetic causes. | Histology can show sea-blue histiocytes, but genetic testing confirms the underlying APOE mutation. |
Frequently Asked Questions
What is sea-blue histiocyte disease?
How is the APOE Gene NGS Genetic Test performed?
What are the symptoms of sea-blue histiocyte disease?
Why is genetic testing important for this disease?
What is the cost of the APOE Gene NGS Genetic Test in India?
How long does it take to get the test results?
Is fasting required before the test?
What sample types are accepted for the test?
Can this test detect other genetic variants?
What should I do if the test results are positive?
Is the test covered by insurance in India?
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