Test Price
2,800 AED✅ Home Collection Available
LIPN Gene Ichthyosis Lamellar Type 4 Genetic Test in UAE | 2,800 AED | DHA Licensed Laboratory
Executive Summary & Core Metrics
Diagnostic Accuracy & Certification
99.9% sensitivity for pathogenic variants in LIPN via NGS on ISO 9001:2015 platform (Cert: INT/EGQ/2509DA/3139).
VIP Mobile Phlebotomy
ISO-compliant temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across all UAE emirates.
Post-Test Genetic Counseling
A dedicated telephonic session with a board-certified clinical geneticist to interpret results and guide management.
Insurance Verification
Confirm coverage instantly via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This molecular diagnostic assay employs next-generation sequencing (NGS) to detect disease-causing variants in the LIPN gene, which encodes a lipase essential for epidermal lipid processing. Pathogenic mutations in LIPN lead to lamellar ichthyosis type 4, a rare autosomal recessive disorder characterized by generalized scaling, erythroderma, and impaired skin barrier function. The test delivers comprehensive coverage of all coding exons, intronic boundaries, and select copy-number variants, providing a definitive genetic diagnosis to inform prognosis, targeted therapy decisions, and family planning.
| Parameter | Our NGS Panel Test | Single-Gene Sanger Sequencing |
|---|---|---|
| Precision | 99.9% via ultra-deep NGS coverage | Approximately 99% limited to target exons |
| Methodology | Illumina NovaSeq NGS covering full gene, flanking introns, and CNV detection | Sanger sequencing of individual exons only |
| Comprehensiveness | All coding exons, splice sites, deep intronic regions, and optional expanded ichthyosis gene panel | Restricted to LIPN coding exons; no CNV or intronic variant detection |
| Turnaround Time | 3–4 Weeks | 3–4 Weeks (comparable analytical duration) |
| Cost (AED) | 2,800 | Variable, frequently exceeding 2,500 for single-gene analysis |
Physician Insight & Safety Protocols
"Identification of a pathogenic LIPN variant via NGS provides families with a precise molecular diagnosis, enabling tailored dermatological care, surveillance for complications such as dehydration and failure to thrive, and informed reproductive counseling. All results must be interpreted in the context of full clinical and histopathological correlation."
Lina Osama Zaki Quteineh, Consultant Medical Genetics – DHA Registration ID: 9294403
Important Clinical Advisory
Medication and Management Guidance
Patients undergoing systemic retinoid therapy (e.g., acitretin) must not discontinue or alter dosage based solely on genetic test results. Ongoing dermatological supervision remains essential. Genetic findings should complement, not replace, routine clinical follow-up and topical care regimens.
Exclusion Criteria & Emergency Indicators
Pre-Test Exclusions
- Acute febrile illness or active infection compromising DNA yield.
- Blood transfusion within the preceding two weeks may introduce donor DNA interference.
- Not validated for standalone prenatal diagnosis; amniocentesis and genetic counseling are required for fetal testing.
Emergency Red Flags
- Newborn presenting with a collodion membrane accompanied by respiratory distress demands immediate NICU admission.
- Signs of severe dehydration, sepsis, electrolyte imbalance, or failure to thrive warrant urgent dermatological and pediatric evaluation.
- This assay is a constitutional germline test and is not intended for minimal residual disease monitoring or somatic mutation analysis.
Patient FAQ & Clinical Guidance
1. What does the LIPN gene NGS test diagnose?
This test detects pathogenic variants in the LIPN gene responsible for lamellar ichthyosis type 4, a rare inherited skin barrier disorder. It employs next-generation sequencing to achieve a sensitivity exceeding 99% for coding and splice-site mutations, enabling accurate molecular diagnosis, prognosis, and tailored management planning.
2. How is the sample collected and can it be done at home?
A standard peripheral whole blood sample (2–5 mL in EDTA) is collected by our ISO-certified VIP Mobile Phlebotomy team operating across the UAE from 8 AM to 11 PM. An FTA card (dried blood spot) is also accepted. The specimen is transported under continuous temperature-controlled cold-chain logistics to the laboratory for DNA extraction and NGS analysis.
3. What do the results mean and what are the next steps?
A positive result confirms a genetic etiology for lamellar ichthyosis type 4 and guides targeted treatment, surveillance, and family counseling. A negative result does not exclude the diagnosis and may require expanded testing or clinical re-evaluation. Every report is followed by a telephonic genetic counseling session with our consultant medical geneticist.
UAE Regulatory & Data Privacy Adherence
Patient Data Protection and Legal Compliance
All genetic data is processed and stored 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. Clinical testing protocols, patient consent procedures, and medical liability safeguards adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE maintains DHA Facility License No. 1143 and enforces audit-controlled data governance aligned with international standards.
Clinical & Logistical Metadata
| Test Name | LIPN Gene Ichthyosis Lamellar Type 4 Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or FTA Card (Dried Blood Spot); VIP Mobile Phlebotomy available daily 8 AM–11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq with full gene, intronic, and CNV coverage |
| ICD-10-CM Code | Q80.2 |
| LOINC Code | 81261-6 |
| DHA Facility License & Laboratory Address | DNA Labs UAE – DHA License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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