LDLR Gene Hypercholesterolemia Due to LDL Receptor Disorder Autosomal Dominant NGS Genetic DNA Test
Understanding Familial Hypercholesterolemia and Genetic Testing
Familial Hypercholesterolemia (FH) is a serious inherited metabolic disorder characterized by extremely high levels of low-density lipoprotein (LDL) cholesterol from birth. This condition affects approximately 1 in 250 people worldwide and significantly increases the risk of premature cardiovascular disease, heart attacks, and strokes. The LDLR Gene Hypercholesterolemia NGS Genetic DNA Test represents a breakthrough in early detection and personalized management of this life-threatening condition.
What This Advanced Genetic Test Measures
Our comprehensive NGS (Next-Generation Sequencing) test specifically analyzes the LDL receptor gene (LDLR) for mutations that cause autosomal dominant familial hypercholesterolemia. The test detects:
- Pathogenic variants in the LDLR gene affecting cholesterol metabolism
- Autosomal dominant inheritance patterns
- Specific mutations that impair LDL receptor function
- Genetic markers associated with severe hypercholesterolemia
- Variants that may influence treatment response and prognosis
Who Should Consider LDLR Genetic Testing?
Clinical Indications and Symptoms
Genetic testing for LDLR mutations is recommended for individuals presenting with:
- Persistently elevated LDL cholesterol levels (>190 mg/dL in adults)
- Family history of early heart disease (before age 55 in men, 65 in women)
- Physical signs like tendon xanthomas or corneal arcus
- Poor response to standard cholesterol-lowering medications
- Personal history of premature cardiovascular disease
- Children with significantly elevated cholesterol levels
- Family members of individuals with confirmed FH diagnosis
Comprehensive Benefits of Genetic Testing
Early Detection and Proactive Management
Undergoing LDLR genetic testing provides numerous critical benefits:
- Accurate Diagnosis: Confirms familial hypercholesterolemia with 99% accuracy
- Early Intervention: Enables treatment before cardiovascular damage occurs
- Family Screening: Identifies at-risk relatives for preventive care
- Personalized Treatment: Guides medication selection and dosage
- Lifestyle Planning: Informs dietary and exercise recommendations
- Reproductive Counseling: Assists in family planning decisions
- Psychological Relief: Reduces uncertainty and anxiety about health risks
Understanding Your Test Results
Interpretation and Next Steps
Your genetic test results will fall into one of these categories:
- Positive Result: Confirms LDLR mutation and FH diagnosis. Immediate consultation with a lipid specialist and implementation of aggressive cholesterol management is recommended.
- Negative Result: No pathogenic LDLR variants detected. Other causes of hypercholesterolemia should be investigated.
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation.
All results include detailed interpretation by our certified genetic counselors and specific recommendations for follow-up care, treatment options, and family member testing.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | LDLR Gene Hypercholesterolemia Due to LDL Receptor Disorder Autosomal Dominant NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Genetics and Metabolic Disorders |
Pre-Test Preparation and Requirements
Before scheduling your LDLR genetic test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of test implications with healthcare provider
- Understanding of insurance coverage and out-of-pocket costs
- Preparation for possible psychological impact of results
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, reliable results regardless of location.
Take Control of Your Cardiovascular Health Today
Don’t let genetic predisposition to high cholesterol dictate your health future. Early detection through LDLR genetic testing can prevent serious cardiovascular complications and save lives. Our team of genetic specialists, cardiologists, and counselors are ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or speak with our genetic counseling team. Take the first step toward understanding your genetic risk and protecting your heart health for years to come.
