Test Price
2,800 AED✅ Home Collection Available
NIPAL4 Gene (Congenital Ichthyosiform Erythroderma, Nonbullous Type 1) Genetic Test in UAE – 2800 AED
Executive Summary & Core Metrics
DNA Labs UAE delivers 99.9% diagnostic sensitivity for NIPAL4 gene mutations through ISO-accredited next-generation sequencing. Our service integrates VIP mobile phlebotomy with temperature-controlled cold-chain logistics, available daily from 8 AM to 11 PM. Post-test telephonic clinical guidance is provided by a Consultant Medical Geneticist. Direct insurance verification is accessible via WhatsApp at +971 54 548 8731.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM – 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The NIPAL4 gene test identifies pathogenic variants causing autosomal recessive congenital ichthyosis type 1, also known as nonbullous congenital ichthyosiform erythroderma. This severe skin barrier disorder presents at birth with generalized erythema and scaling. Our next-generation sequencing assay delivers comprehensive coverage of all coding exons and splice junctions, enabling precise molecular diagnosis for dermatologists, paediatricians, and clinical geneticists.
| Feature | DNA Labs UAE NIPAL4 NGS Test | Alternative Sanger Sequencing |
|---|---|---|
| Precision | >99.9% sensitivity for all NIPAL4 exonic and splice-site variants | ~95% for targeted point mutations only |
| Method | Next-Generation Sequencing (NGS) with full bioinformatics annotation | Conventional Sanger capillary electrophoresis |
| Turnaround | 3–4 Weeks (Standard) | 4–6 Weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I recognize that a diagnosis of congenital ichthyosiform erythroderma carries profound implications for both clinical management and family planning. This NGS-based assay provides comprehensive exon coverage of NIPAL4, delivering definitive molecular results that empower precise therapeutic decisions and informed reproductive counselling. Results should always be interpreted alongside the full clinical picture and discussed with a qualified genetics professional.”
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
Patients undergoing genetic evaluation should continue all prescribed topical and systemic therapies unless explicitly directed otherwise by their managing clinician. Abrupt discontinuation of emollients, corticosteroids, or retinoids may exacerbate skin barrier dysfunction and should be avoided.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients with active severe bleeding disorder or acute febrile illness should defer phlebotomy. Notify the phlebotomist if anticoagulant therapy is being used.
- Red Flag – Post Collection: Seek immediate medical attention if excessive bleeding, swelling, or signs of infection (redness, warmth, purulent discharge) develop at the puncture site, or if systemic symptoms such as fever, syncope, or dyspnoea occur after blood draw.
- Emergency: For any severe allergic reaction (anaphylaxis) call 998 (UAE ambulance) and proceed to the nearest Emergency Department without delay.
Patient FAQ & Clinical Guidance
1. What is the NIPAL4 gene test used for?
The NIPAL4 test detects mutations responsible for nonbullous congenital ichthyosiform erythroderma, a severe genetic skin disorder evident at birth. It confirms the clinical diagnosis, guides management of hyperkeratosis and barrier dysfunction, and supports carrier detection and prenatal planning for affected families.
2. What sample is required and how is the test performed?
A standard peripheral whole blood sample is collected via venipuncture. Alternatively, extracted DNA or a single blood spot on an FTA card may be submitted. DNA is analysed using next-generation sequencing technology, and results are reported within three to four weeks of sample receipt.
3. Is this test DHA accredited and covered by insurance?
Yes, the test is fully licensed by the Dubai Health Authority (DHA Facility License No. 1143) and performed in our ISO-accredited laboratory. A complimentary genetic counselling session is provided to help interpret your results. Insurance coverage verification is available directly via WhatsApp at +971 54 548 8731.
4. How should I prepare for the blood collection?
No special preparation is required. You may continue all prescribed medications unless your physician advises otherwise. Please inform the phlebotomist about any anticoagulant therapy or bleeding tendencies before the draw.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE 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 encrypted, access-restricted, and processed solely for diagnostic purposes. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Our DHA-licensed facility (License No. 1143) maintains ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | NIPAL4 Gene (Congenital Ichthyosiform Erythroderma, Nonbullous Type 1) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood, Extracted DNA, or FTA Card Blood Spot (VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) – Full coding exon and splice-junction coverage with bioinformatics variant interpretation |
| ICD-10-CM Code | Q80.2 |
| LOINC Code | 48018-6 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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