Test Price
2,800 AED✅ Home Collection Available
LDLRAP1 Genetic Testing for Autosomal Recessive Hypercholesterolemia | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Core Metrics & Service Assurance
Test Overview & Methodology
This next‑generation sequencing (NGS) test analyzes the LDLRAP1 gene to definitively diagnose autosomal recessive hypercholesterolemia. By identifying pathogenic variants that impair LDL receptor function, the assay provides a precise genetic basis for severe early‑onset hypercholesterolemia, enabling targeted lipid management and cascade screening of at‑risk relatives.
| Feature | Our LDLRAP1 NGS Test | Closest Alternative (Standard Lipid Panel) |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity (targeted gene sequencing) | Limited; only biochemical phenotype, no genetic confirmation |
| Methodology | Next‑Generation Sequencing (NGS) with LC‑MS/MS‑validated variant calling | Enzymatic colorimetric / immunoturbidimetric assays |
| Result Speed | 3–4 Weeks (comprehensive report) | Same day (but incomplete diagnostic picture) |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
"Genetic testing for autosomal recessive hypercholesterolemia can be a pivotal moment for families. The LDLRAP1 analysis provides definitive molecular answers, allowing for personalized prevention and early intervention in carriers. Always interpret results within the full clinical context and involve a genetic counselor to guide family planning discussions."
Medication Advisory
Do not discontinue prescribed cholesterol‑lowering medication without consulting your physician. Abrupt cessation can lead to dangerous cardiovascular events. This genetic test is intended to inform long‑term management, not to replace ongoing therapy.
Exclusion Criteria & Emergency Flags
- Not suitable if patient is currently experiencing an acute coronary syndrome or unstable angina; stabilize first.
- Avoid testing during acute inflammatory states (e.g., active infection, recent surgery) as lipid levels may be transiently altered; genetic result remains valid but clinical correlation may be skewed.
- ER Red Flags: If you develop crushing chest pain, shortness of breath at rest, sudden numbness or weakness on one side of the body, or severe dizziness, seek immediate emergency care regardless of this test’s status.
Patient FAQ & Clinical Guidance
1. What exactly does the LDLRAP1 genetic test detect?
This next‑generation sequencing test analyzes the LDLRAP1 gene to accurately diagnose autosomal recessive hypercholesterolemia. It reveals pathogenic mutations that prevent normal LDL receptor function, leading to dangerously high cholesterol from birth. Early detection guides aggressive lipid management and screening of family members.
2. Who should consider undergoing the LDLRAP1 gene test?
Individuals with unexplained severe high cholesterol, family history of early heart disease, or suspected autosomal recessive hypercholesterolemia should consider testing. It is especially vital for couples planning a family when both carriers might pass the condition to children. Genetic counseling is recommended before and after testing.
3. What preparation is required before giving a sample?
No fasting is required for genetic testing, but a prior genetic counseling session is mandatory to draw a pedigree. You must provide a detailed clinical history of affected family members. The sample can be collected via a simple blood draw, extracted DNA, or a drop of blood on an FTA card. Inform your phlebotomist of any blood‑thinning medications.
UAE Regulatory & Data Privacy Adherence
All genetic data processing complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genetic information is encrypted, stored securely, and never shared without explicit consent.
ISO 9001:2015 Certified | Certificate No. INT/EGQ/2509DA/3139
Clinical & Logistical Metadata
| Test Name | LDLRAP1 Genetic Testing for Autosomal Recessive Hypercholesterolemia |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Blood or Saliva (DNA Extraction) |
| Methodology Used | Next‑Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | E78.01, E78.0, Z14.8 |
| LOINC Code | 103176-0 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE (DNA Labs UAE) |
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