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LDLR Gene Hypercholesterolemia due to LDL-receptor-disorder autosomal dominant NGS Genetic Test

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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.

Next-Generation Sequencing (NGS) Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

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)
Step 1

Sample Collection

No special preparation required. Inform the healthcare provider about any medications or medical conditions.

Method: Venipuncture or FTA card spotting

Step 2

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.

Step 3

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

1
Before the Test:Genetic counseling is recommended before testing to discuss implications, benefits, and limitations.
2
During the Test:Sample collection is followed by DNA extraction and next-generation sequencing analysis in the laboratory.
3
After the Test:Report generation includes clinical interpretation, and a genetic counseling session is provided to discuss results.

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 — 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 TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood or as per collection method
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spotting

Sample Stability

Blood samples are stable at room temperature for up to 48 hours
Extracted DNA samples can be stored at -20°C for longer periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Damaged or expired FTA cards

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the LDLR gene, helping to confirm diagnosis and guide treatment.
Positive result: Pathogenic mutation detected, confirming LDLR gene hypercholesterolemia with increased cardiovascular risk
Negative result: No pathogenic mutation detected, but does not rule out other genetic or environmental causes of high cholesterol
Variant of uncertain significance (VUS): Further testing or family studies may be required for clarification
⚠️ When to Consult a Doctor:

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

TestLDLR Gene Hypercholesterolemia due to LDL-receptor-disorder autosomal dominant NGS Genetic Test
ComparisonLDLR Gene Hypercholesterolemia due to LDL-receptor-disorder autosomal dominant NGS Genetic Test

Frequently Asked Questions

What is LDLR gene hypercholesterolemia?
It is a genetic disorder caused by mutations in the LDLR gene, leading to high LDL cholesterol levels and increased risk of heart disease.
How is the NGS genetic test performed?
The test uses next-generation sequencing to analyze DNA from a blood sample or FTA card for mutations in the LDLR gene.
What are the symptoms of this disorder?
Symptoms may include chest pain, shortness of breath, fatigue, and signs of peripheral artery disease, though early stages can be asymptomatic.
Who should consider getting this test?
Individuals with a family history of high cholesterol, premature heart disease, or suspected familial hypercholesterolemia should consider testing.
What is the cost of the test in India?
The cost is INR 20,000 at DNA Labs India, with home sample collection available.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test covered by insurance?
Coverage varies by insurance plan; it is not automatically covered under government schemes like PMJAY. Check with your provider.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the LDLR gene, confirming the disorder and requiring management to reduce cardiovascular risk.
What does a negative result mean?
A negative result means no pathogenic mutation was detected, but high cholesterol may still be due to other genetic or lifestyle factors.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection across India for this test.
What sample type is required?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
How accurate is the NGS genetic test?
NGS provides high accuracy for detecting mutations in the LDLR gene, but genetic counseling is recommended for interpretation.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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