LPA Gene LPA deficiency, congenital NGS Genetic Test
Short Name: LPA Gene NGS Test
Also known as: Lipoprotein(a) Gene Test, LPA Genetic Analysis, Congenital Lp(a) Deficiency Test, LPA Mutation Analysis, LPA Gene Sequencing Test
LPA Gene LPA deficiency, congenital 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 Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.. 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 pathogenic or likely pathogenic mutations in the LPA gene using Next Generation Sequencing (NGS) technology for the diagnosis of congenital lipoprotein(a) deficiency and assessment of associated cardiovascular risk.
- Test Code
- 2140
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
A pre-test genetic counselling session is required before sample collection. Provide complete clinical history of the patient and draw a pedigree chart of family members affected with LPA deficiency. No fasting is required.
Method: Venipuncture or FTA Card Blood Spot
Laboratory Analysis
A blood sample of 3-5 mL is collected via venipuncture into an EDTA tube, or a single drop of blood is spotted onto an FTA card. The procedure is simple, painless, and takes only a few minutes.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball. No special post-collection care is needed. The sample is labelled and transported to the laboratory at ambient room temperature. Results will be available within 3 to 4 weeks.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic or likely pathogenic mutations in the LPA gene using Next Generation Sequencing (NGS) technology for the diagnosis of congenital lipoprotein(a) deficiency and assessment of associated cardiovascular risk.
How to Prepare
- Complete a pre-test genetic counselling session before sample collection
- Provide detailed clinical history and family pedigree chart of affected members
- No fasting is required before the test
- Ensure proper patient identification and sample labelling
- Blood sample should be collected in an EDTA tube or spotted on an FTA card
- Sample should be transported at ambient room temperature to the laboratory
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"LPA gene deficiency is an under-recognised genetic condition with significant cardiovascular implications. Mutations in the LPA gene can lead to altered lipoprotein(a) levels, increasing the risk of premature atherosclerosis, heart attack, and stroke. NGS-based genetic testing provides definitive molecular diagnosis, enabling targeted risk management for patients and cascade screening of at-risk family members. I recommend this test for individuals with a strong family history of premature cardiovascular disease or unexplained lipid abnormalities."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrectly labelled or unlabelled samples
- Contaminated samples
- Samples received without proper clinical history documentation
- Samples without completed pre-test genetic counselling documentation
Understanding Your Results
No Pathogenic Variant Detected
No disease-causing mutations were identified in the LPA gene. This result does not completely exclude genetic susceptibility to cardiovascular disease. Clinical correlation and serum Lp(a) level testing may still be warranted.
Pathogenic Variant Detected
One or more disease-causing mutations were identified in the LPA gene. Genetic counselling is strongly recommended for the patient and at-risk family members. Clinical management should be tailored accordingly.
Likely Pathogenic Variant Detected
A variant likely responsible for disease was identified with strong supporting evidence. Further clinical correlation, family segregation studies, and genetic counselling are recommended.
Variant of Uncertain Significance (VUS)
A variant with uncertain clinical significance was detected. Current evidence is insufficient to classify it as pathogenic or benign. Additional family studies and clinical follow-up are advised. Classification may be updated as more data becomes available.
Consult your physician or genetic counsellor if a pathogenic or likely pathogenic variant is detected, if you have a family history of premature cardiovascular disease, if you experience symptoms such as recurrent blood clots or unexplained stroke, or if you need guidance regarding risk management, preventive strategies, and family planning.
Limitations
- ⚠This test does not detect all possible mutations in the LPA gene including deep intronic or regulatory region variants
- ⚠Results must be interpreted in conjunction with clinical findings and family history
- ⚠Variants of uncertain significance (VUS) may be identified and may require further investigation
- ⚠This genetic test does not replace serum Lp(a) level testing for clinical management decisions
- ⚠Large structural variants and copy number variations may not be fully detected by standard NGS methodology
- ⚠Negative result does not completely exclude genetic susceptibility to cardiovascular disease
Risks & Considerations
- ●Minimal risk associated with blood collection such as slight bruising or discomfort at the puncture site
- ●Psychological impact of receiving genetic test results, particularly if a pathogenic variant is detected
- ●Risk of misinterpretation of results without proper genetic counselling
- ●Possible identification of variants of uncertain significance (VUS) which may cause anxiety
Interfering Factors
- ●Degraded or low-quality DNA samples
- ●Contaminated blood samples
- ●Recent blood transfusion within the past 4 weeks may affect results
- ●Hemolyzed or clotted blood samples
- ●Improper sample storage or transport conditions
Compare With Similar Tests
| Test | LPA Gene LPA deficiency, congenital NGS Genetic Test | Lipoprotein(a) [Lp(a)] Blood Level Test | Lipid Profile Test | Apolipoprotein B Test | Comprehensive Cardiac Gene Panel |
|---|---|---|---|---|---|
| Comparison | LPA Gene LPA deficiency, congenital NGS Genetic Test |
Frequently Asked Questions
What is LPA gene deficiency?
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Who should consider getting tested for LPA gene deficiency?
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What is NGS technology and how is it used in this test?
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