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LDLRAP1 Gene Hypercholesterolemia autosomal recessive NGS Genetic Test

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LDLRAP1 Gene Hypercholesterolemia autosomal recessive NGS Genetic Test

Also known as: Autosomal Recessive Hypercholesterolemia, LDLRAP1-Related Hypercholesterolemia

LDLRAP1 Gene Hypercholesterolemia autosomal recessive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, Extracted DNA, FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose autosomal recessive hypercholesterolemia caused by mutations in the LDLRAP1 gene using Next Generation Sequencing (NGS) technology, aiding in early detection and management of the disorder.

Test Code
4704
Price
₹20,000
Sample Type
Blood, Extracted DNA, FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a family pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture.

Step 3

Report Delivery

Sample will be processed for NGS analysis. Reports available in 3-4 weeks.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling to draw a family pedigree chart.
2
During the Test:Blood sample will be collected via venipuncture for NGS analysis.
3
After the Test:Sample processing and report generation in 3-4 weeks. Genetic counseling recommended post-test.

About This Test

Who Should Get This Test

To diagnose autosomal recessive hypercholesterolemia caused by mutations in the LDLRAP1 gene using Next Generation Sequencing (NGS) technology, aiding in early detection and management of the disorder.

How to Prepare

  • No fasting required
  • Bring valid ID and doctor's prescription
  • Wear comfortable clothing for blood draw

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early diagnosis through genetic testing is crucial for managing hypercholesterolemia and preventing cardiovascular complications. Genetic counseling is recommended for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the LDLRAP1 gene associated with autosomal recessive hypercholesterolemia.
📊

Pathogenic variant detected

Diagnosis of LDLRAP1-related hypercholesterolemia confirmed. Consult genetic counselor and cardiologist for management.

📊

No pathogenic variant detected

No evidence of LDLRAP1 gene mutation. Consider other causes of hypercholesterolemia and consult a physician.

⚠️ When to Consult a Doctor:

If you have a family history of hypercholesterolemia, elevated cholesterol levels, or symptoms like chest pain, consult a doctor for genetic testing and evaluation.

Limitations

  • ⚠May not detect all mutations
  • ⚠Results require genetic counseling
  • ⚠Not a diagnostic tool for all hypercholesterolemia cases

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Possible bruising or infection at puncture site

Interfering Factors

  • ●Sample degradation
  • ●Contamination
  • ●Technical errors

Compare With Similar Tests

TestLDLRAP1 Gene Hypercholesterolemia autosomal recessive NGS Genetic TestFamilial Hypercholesterolemia Gene PanelLipid Profile Test
ComparisonLDLRAP1 Gene Hypercholesterolemia autosomal recessive NGS Genetic Test

Frequently Asked Questions

What is LDLRAP1 Gene Hypercholesterolemia?
It is a rare genetic disorder caused by mutations in the LDLRAP1 gene, leading to high cholesterol levels due to impaired LDL receptor function.
What causes LDLRAP1 Gene Hypercholesterolemia?
It is caused by mutations in the LDLRAP1 gene inherited in an autosomal recessive pattern, meaning both parents must carry the mutated gene.
What are the symptoms of LDLRAP1 Gene Hypercholesterolemia?
Symptoms may include chest pain, shortness of breath, fatigue, tingling or numbness in hands/feet, and early cardiovascular disease.
How is LDLRAP1 Gene Hypercholesterolemia diagnosed?
Diagnosis is through genetic testing, specifically the LDLRAP1 Gene NGS Genetic Test, which detects mutations in the gene.
What is the LDLRAP1 Gene Hypercholesterolemia NGS Genetic Test?
It is a Next Generation Sequencing test that analyzes the LDLRAP1 gene for mutations associated with autosomal recessive hypercholesterolemia.
How much does the test cost?
The test costs INR 20000 at DNA Labs India, with home sample collection available.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card is required.
How long does it take to get the results?
Results are typically available within 3-4 weeks of sample submission.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
What should I do before getting tested?
Provide clinical history and undergo genetic counseling to draw a family pedigree chart.
What do the test results mean?
Results indicate if pathogenic variants in the LDLRAP1 gene are detected, confirming diagnosis, or if no variants are found, suggesting other causes.
Where can I get this test done?
The test is available at DNA Labs India with home collection in numerous cities across India. Contact for appointments.
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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For Hospitals & Clinics

Reference 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.

LIMS Integration

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.

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