ABCA1 Gene Tangier disease NGS Genetic Test
Short Name: ABCA1 Gene Test
Also known as: Tangier disease, Familial HDL deficiency, ABCA1 deficiency syndrome
ABCA1 Gene Tangier disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood 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
To detect mutations in the ABCA1 gene that cause Tangier disease, characterized by very low levels of HDL cholesterol and associated health risks.
- Test Code
- 2256
- ICD Code
- E78.70
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Inform the doctor about any medications or health conditions. Genetic counselling session is recommended.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in your arm by a trained phlebotomist.
Report Delivery
Apply pressure to the site to stop bleeding. Avoid heavy lifting for a few hours.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the ABCA1 gene that cause Tangier disease, characterized by very low levels of HDL cholesterol and associated health risks.
How to Prepare
- Ensure sample is properly labeled with patient details
- Transport at room temperature
- Avoid hemolysis by gentle handling
- Use sterile techniques
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for Tangier disease is crucial for early diagnosis and management of lipid metabolism disorders, especially in families with a history of low HDL cholesterol."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient volume
- Incorrect tube type
- Contaminated sample
Understanding Your Results
Pathogenic variant detected
Consistent with Tangier disease; refer to genetic counsellor for management and family testing
No variant detected
Unlikely to have Tangier disease based on this gene; consider other causes if symptoms persist
Variant of uncertain significance
Further testing and counselling recommended to clarify clinical significance
If you have symptoms of Tangier disease such as low HDL cholesterol, enlarged tonsils, or a family history, consult a geneticist or metabolic specialist for evaluation.
Limitations
- ⚠May not detect all rare variants
- ⚠Results require genetic counselling
- ⚠Not a diagnostic tool for all metabolic disorders
- ⚠Variant of uncertain significance may require further testing
Risks & Considerations
- ●Minor bruising at puncture site
- ●Infection risk (very low)
- ●Fainting or dizziness during blood draw
- ●Hematoma formation
Interfering Factors
- ●Poor sample quality
- ●Contamination
- ●Technical errors in sequencing
- ●Hemolyzed blood sample
Compare With Similar Tests
| Test | ABCA1 Gene Tangier disease NGS Genetic Test | Lipid Profile Test | Apolipoprotein A1 (ApoA1) Test | HDL Cholesterol Direct Test |
|---|---|---|---|---|
| Comparison | ABCA1 Gene Tangier disease NGS Genetic Test |
Frequently Asked Questions
What is Tangier disease?
What does the ABCA1 Gene NGS Genetic Test detect?
How is the test performed?
What is the cost of the ABCA1 Gene test?
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Is home sample collection available?
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What if a variant of uncertain significance is found?
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