LDLR Gene Hypercholesterolemia due to LDL-receptor-disorder autosomal dominant NGS Genetic Test
Short Name: LDLR Hypercholesterolemia NGS Test
Also known as: Familial Hypercholesterolemia, LDLR-related Hypercholesterolemia
LDLR Gene Hypercholesterolemia due to LDL-receptor-disorder autosomal dominant 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 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 identify mutations in the LDLR gene responsible for autosomal dominant hypercholesterolemia, aiding in diagnosis, family screening, and management to prevent cardiovascular complications.
- Test Code
- 2080
- Price
- ₹20,000
- Sample Type
- Blood or 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 required. Inform the healthcare provider about any medications or medical conditions.
Method: Venipuncture or FTA card spotting
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist using standard venipuncture techniques or a FTA card for one-drop blood collection.
Report Delivery
Apply pressure to the puncture site with a cotton ball to stop bleeding. Keep the area clean and dry.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the LDLR gene responsible for autosomal dominant hypercholesterolemia, aiding in diagnosis, family screening, and management to prevent cardiovascular complications.
How to Prepare
- Avoid eating or drinking for 30 minutes before collection if specified by the lab
- Ensure proper identification and labeling of the sample
- Follow instructions for FTA card collection if using that method
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for LDLR mutations is crucial for early diagnosis and management of familial hypercholesterolemia, reducing cardiovascular risk through personalized treatment."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
- Damaged or expired FTA cards
Understanding Your Results
Consult a geneticist or cardiologist if you have a positive result, a family history of hypercholesterolemia, or symptoms of cardiovascular disease for personalized management.
Limitations
- ⚠Only detects mutations in the LDLR gene
- ⚠May not identify all genetic causes of hypercholesterolemia
- ⚠Requires genetic counseling for accurate interpretation
- ⚠Results may have variants of uncertain significance needing further study
Risks & Considerations
- ●Minimal risk from blood draw: bruising, soreness, or infection at the puncture site
- ●Potential emotional impact from genetic results, requiring support and counseling
Interfering Factors
- ●Poor sample quality or contamination
- ●Incorrect sample storage or handling
- ●Technical issues during DNA extraction or sequencing
Compare With Similar Tests
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| Comparison | LDLR Gene Hypercholesterolemia due to LDL-receptor-disorder autosomal dominant NGS Genetic Test |
Frequently Asked Questions
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