ABCA1 Gene Coronary artery disease in familial hypercholesterolemia, protection against NGS Genetic Test
Short Name: ABCA1 Gene CAD in FH NGS Test
Also known as: ABCA1 Gene Mutation Analysis, ABCA1 Gene Sequencing Test, ABCA1 Cardiovascular Risk Genetic Test, Familial Hypercholesterolemia ABCA1 Panel, ABCA1 Cholesterol Transport Gene Test
ABCA1 Gene Coronary artery disease in familial hypercholesterolemia, protection against NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if required) on Blood samples. Results in Results are typically available within 3 to 4 weeks from the date of sample collection.. 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 identify mutations and variants in the ABCA1 gene that may influence coronary artery disease risk in individuals with familial hypercholesterolemia. By detecting both pathogenic mutations that increase cardiovascular risk and protective variants that may enhance cholesterol efflux, this test supports personalised risk assessment, informed clinical decision-making, and targeted management strategies for patients and their families.
- Test Code
- 5326
- CPT Code
- 81405
- ICD Code
- E78.01
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample collection.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation (if required)
Sample Collection
A genetic counselling session is recommended prior to sample collection to document the patient's clinical history, draw a detailed pedigree chart of affected family members, and obtain informed consent. No fasting is required. Inform the laboratory of any recent blood transfusions or ongoing treatments that may affect DNA quality.
Method: Venipuncture
Laboratory Analysis
A qualified phlebotomist will collect approximately 5 mL of venous blood using standard venipuncture technique into an EDTA (lavender top) vacutainer. The sample will be labelled, gently mixed, and stored at ambient room temperature until transport to the laboratory.
Report Delivery
Apply pressure to the venipuncture site for 3 to 5 minutes to prevent bruising. The sample will be processed in the molecular genetics laboratory using NGS technology. Results are typically available within 3 to 4 weeks and will be delivered via the online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations and variants in the ABCA1 gene that may influence coronary artery disease risk in individuals with familial hypercholesterolemia. By detecting both pathogenic mutations that increase cardiovascular risk and protective variants that may enhance cholesterol efflux, this test supports personalised risk assessment, informed clinical decision-making, and targeted management strategies for patients and their families.
How to Prepare
- No fasting is required before sample collection
- Carry a valid government-issued photo ID and the doctor's prescription or referral
- Inform the phlebotomist about any medications, recent transfusions, or ongoing treatments
- A genetic counselling session should be completed before or at the time of sample collection
- Provide a detailed family history including any known diagnoses of FH, CAD, or sudden cardiac events
- Wear loose-fitting clothing to allow easy access to the arm for venipuncture
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As a cardiologist, I frequently encounter patients with familial hypercholesterolemia who face an elevated risk of premature coronary artery disease. The ABCA1 gene encodes a key transporter protein involved in reverse cholesterol transport, the process by which excess cholesterol is removed from peripheral tissues and delivered to the liver. Mutations in ABCA1 can impair this pathway, reducing HDL cholesterol levels and compounding the cardiovascular risk already posed by FH. Conversely, certain ABCA1 variants may confer a protective effect by enhancing cholesterol efflux capacity. This NGS-based test allows us to identify both pathogenic and protective ABCA1 variants, enabling more precise cardiovascular risk stratification. For patients with a strong family history of early-onset heart disease or those with cholesterol levels inadequately controlled by standard therapy, this test can guide personalised management strategies including intensified lipid-lowering therapy, lifestyle interventions, and structured cardiac surveillance. I recommend genetic counselling before and after testing to ensure patients fully understand the implications of their results."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed, clotted, or insufficient sample volume
- Sample collected in incorrect container (non-EDTA tube)
- Unlabelled or mislabelled samples
- Samples received beyond the stability window without prior arrangement
- Samples without accompanying requisition form or clinical history
Understanding Your Results
No Pathogenic Variants Detected
No disease-causing mutations were identified in the ABCA1 gene. This result does not eliminate the risk of coronary artery disease, as other genetic and environmental factors may contribute. Clinical management should continue based on standard guidelines for FH and cardiovascular risk.
Pathogenic or Likely Pathogenic Variant Detected
A mutation classified as pathogenic or likely pathogenic was identified in the ABCA1 gene. This may indicate impaired cholesterol efflux capacity, reduced HDL levels, and an increased risk of coronary artery disease in the setting of FH. Intensified cardiovascular monitoring, aggressive lipid management, and cascade testing of at-risk family members are recommended.
Variant of Uncertain Significance (VUS) Detected
A genetic variant of uncertain clinical significance was identified. Current evidence is insufficient to classify this variant as pathogenic or benign. Clinical decisions should not be based solely on a VUS result. Follow-up with periodic reclassification as new evidence becomes available is advised.
Likely Benign or Benign Variant Detected
The detected variant is classified as likely benign or benign and is not expected to significantly affect ABCA1 protein function or increase coronary artery disease risk. Standard management for FH should continue as indicated.
Protective Variant Detected
Certain ABCA1 variants may be associated with enhanced cholesterol efflux capacity and a potentially protective effect against coronary artery disease. While this may suggest a relatively lower cardiovascular risk compared to individuals without such variants, comprehensive risk assessment incorporating other genetic, clinical, and lifestyle factors remains essential.
Consult your cardiologist or geneticist if you have a family history of familial hypercholesterolemia, premature coronary artery disease, or sudden cardiac death; if you or a family member have persistently elevated LDL cholesterol levels; if clinical signs such as tendon xanthomas or xanthelasma are present; or if you wish to understand your genetic risk for coronary artery disease and discuss personalised prevention and treatment strategies based on your ABCA1 gene test results.
Limitations
- ⚠This test targets the ABCA1 gene only and does not cover other genes associated with FH such as LDLR, APOB, or PCSK9
- ⚠Variants of Uncertain Significance (VUS) may be detected and cannot be definitively classified as pathogenic or benign at the time of reporting
- ⚠Deep intronic variants and large structural rearrangements beyond the detection capability of NGS may not be identified
- ⚠A negative result does not completely exclude genetic predisposition to coronary artery disease as other genetic and environmental factors contribute to risk
- ⚠Predictive value of results depends on accurate clinical information and family history provided at the time of testing
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Rare risk of fainting during blood draw
- ●Very small risk of infection at the puncture site
- ●Psychological impact of genetic results, particularly if pathogenic variants are identified
- ●Risk of anxiety related to Variants of Uncertain Significance (VUS) results
Interfering Factors
- ●Recent blood transfusion within the past 4 weeks may affect DNA quality
- ●Haemolysed or degraded blood samples may yield inconclusive results
- ●Concurrent use of certain chemotherapeutic agents may affect DNA integrity
- ●Sample contamination during collection or transport may compromise analysis
Compare With Similar Tests
| Test | ABCA1 Gene Coronary artery disease in familial hypercholesterolemia, protection against NGS Genetic Test | Lipid Profile Test | Familial Hypercholesterolemia Gene Panel | APOB Gene Mutation Analysis |
|---|---|---|---|---|
| Comparison | ABCA1 Gene Coronary artery disease in familial hypercholesterolemia, protection against NGS Genetic Test | A lipid profile measures circulating cholesterol and triglyceride levels, while the ABCA1 gene test identifies underlying genetic mutations affecting cholesterol transport. Both tests complement each other for comprehensive cardiovascular risk assessment. | An FH gene panel typically covers LDLR, APOB, PCSK9, and LDLRAP1 genes. The ABCA1 gene test specifically targets the ABCA1 gene, which is not routinely included in standard FH panels but is relevant for assessing HDL-related cardiovascular risk. | APOB gene testing identifies mutations in apolipoprotein B that cause familial defective apolipoprotein B. While APOB mutations primarily affect LDL receptor binding, ABCA1 mutations affect HDL-mediated reverse cholesterol transport. Testing both genes provides a more complete genetic risk picture. |
Frequently Asked Questions
What is the ABCA1 Gene NGS Genetic Test?
Why is this test important for individuals with familial hypercholesterolemia?
What sample is required for this test?
How long does it take to get the results?
What does a positive result mean?
Can this test determine my risk of coronary artery disease?
Is genetic counselling required before the test?
What is the cost of the ABCA1 Gene NGS Genetic Test?
Is home sample collection available for this test?
Who should consider getting this test?
Can the results of this test be used to guide treatment?
Is this test covered under government health schemes?
Related Tests
APOB Gene Hypercholesterolemia type B autosomanl dominant NGS Genetic Test
₹20,000MICM (Maternally Inherited Cardiomyopathy) Mutation Detection Test
₹10,500EPHX2 Gene Hypercholesterolemia, familial, due to LDLR defect, modifier of NGS Genetic Test
₹20,000DSC2 Gene Arrhythmogenic right ventricular cardiomyopathy type 11 NGS Genetic Test
₹20,000KCNA5 Gene Atrial fibrillation type 7 NGS Genetic Test
₹20,000MYH6 Gene Atrial septal defect type 3 NGS Genetic Test
₹20,000Reference Laboratory Services
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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ 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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.