Test Price
2,800 AEDโ Home Collection Available
LIPA Gene Cholesteryl Ester Storage Disease Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy: 99.9% diagnostic sensitivity via ISO-accredited NGS processing.
- Logistics: Temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Post-test telephonic interpretation by a consultant medical geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing test decodes the entire LIPA gene to definitively diagnose cholesterol ester storage disease (CESD) and Wolman disease. It replaces invasive liver biopsies and provides a molecular diagnosis for hepatosplenomegaly, dyslipidemia, and accelerated cardiovascular risk.
| Feature | Our LIPA NGS Test | Enzyme Activity Assay (Alternative) |
|---|---|---|
| Methodology | NGS (Illuminaยฎ platform, 100% coverage) | Acid lipase biochemical assay |
| Diagnostic Sensitivity | >99.9% for point mutations, indels & CNVs | ~85% (cannot detect all carriers) |
| Turnaround Time | 3โ4 Weeks | 1โ2 Weeks |
| Price | 2800 AED | ~1500 AED |
| Clinical Utility | Carrier testing, family screening, prenatal diagnosis | Biochemical diagnosis only |
Physician Insight & Safety Protocols
โThis LIPA gene sequencing test provides a definitive molecular diagnosis for CESD and Wolman disease. It is essential for guiding enzyme replacement therapy and for family cascade screening. All results are reviewed by our board-certified geneticists adhering to DHA standards.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Safety Advisory & Medication Warning
Do not discontinue any prescribed lipid-lowering, statin, or other chronic medication without consulting your treating physician. Always inform the medical team of all medications and supplements. Contact your doctor immediately if you experience new or worsening symptoms.
Exclusion Criteria & ER Red Flags
- Pregnant women: only after genetic counsellor clearance.
- Recent blood transfusion or bone marrow transplant: wait at least 4 weeks to avoid donor DNA interference.
- Acute febrile illness: reschedule until fully recovered.
- ER Red Flag: If a newborn or infant presents with severe abdominal distension, vomiting, hepatosplenomegaly, and failure to thrive, consider Wolman disease and seek urgent hospital care.
Patient FAQ & Clinical Guidance
1. What is the LIPA gene test and how is it performed?
NGS analysis of the LIPA gene identifies pathogenic variants linked to inherited cholesteryl ester storage disease. A routine blood draw or buccal swab is taken, DNA extracted, and the entire gene sequenced. Data is interpreted by board-certified molecular geneticists and a clinical report is issued within 3โ4 weeks.
2. How long until I receive results and what will they show?
Results are available in 3 to 4 weeks, delivering a definitive genetic diagnosis of CESD or Wolman disease. The report lists any detected pathogenic variants, zygosity status, and a clinical interpretation aligned with DHA standards. A negative report rules out primary LIPA deficiency but does not exclude other lipid storage disorders.
3. Is home collection available and is it covered by insurance?
We offer VIP hospital-grade home collection across all UAE emirates, operating daily from 8 AM to 11 PM. Insurance coverage varies; our team proactively verifies your policy via WhatsApp at +971545488731 before scheduling. We support direct billing with major UAE insurers to make the process seamless.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Compliance: This laboratory service operates in full compliance 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. All genetic data is managed with strict confidentiality and security measures.
Clinical & Logistical Metadata
| Test Name | LIPA Gene Cholesteryl Ester Storage Disease Genetic Test |
| Price (AED) | 2800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) โ Illumina platform, full gene coverage including CNV detection |
| ICD-10-CM Code | E75.5 |
| LOINC Code | 74694-2 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Operated by DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians