Test Price
2,800 AED✅ Home Collection Available
PEX7 Gene (Refsum Disease) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
- Diagnostic Accuracy: 99.9% diagnostic sensitivity through ISO-accredited processing with full gene sequencing and CNV detection.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Post-test telephonic consultation with a consultant medical geneticist for result interpretation.
- Insurance Verification: Direct insurance coverage check via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
Overview
The PEX7 gene test screens for Refsum disease, a rare peroxisomal biogenesis disorder characterised by phytanic acid accumulation. This NGS-based assay provides comprehensive coding region coverage with rapid turnaround time and is indicated when a patient presents with retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, or anosmia. The test is ordered by general physicians, clinical geneticists, and neurologists.
| Feature | Our Test (PEX7 NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity; full gene sequencing with CNV detection | Limited to known mutations; may miss deep intronic variants |
| Methodology | Next-Generation Sequencing (Illumina) with confirmation by Sanger | Sanger sequencing of individual exons |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
Physician Insight & Safety Protocols
“A positive PEX7 result must always be correlated with clinical findings and biochemical markers such as plasma phytanic acid levels. This molecular test serves as a critical diagnostic adjunct but does not replace a comprehensive clinical evaluation. Management of confirmed Refsum disease requires a multidisciplinary approach involving neurology, ophthalmology, and metabolic medicine.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Medication Advisory
Do not discontinue or modify any prescribed medication without consulting your physician. Certain medications may interfere with biochemical pathways and affect test interpretation. Provide a complete list of all current medications, including over-the-counter drugs, supplements, and herbal remedies, to your genetic counsellor prior to sample collection.
Exclusion Criteria & Emergency Red Flags
- Acute illness or febrile state within 48 hours before sample collection.
- Recent blood transfusion (within 2 weeks) – may dilute donor DNA and compromise results.
- Inadequate sample quality (hemolyzed, clotted, or insufficient volume).
- Seek immediate medical attention if the patient experiences sudden vision loss, severe muscle weakness, or difficulty breathing – these may indicate rapidly progressive Refsum disease requiring emergency intervention beyond genetic testing.
Patient FAQ & Clinical Guidance
1. What is the PEX7 gene test and why is it performed?
The PEX7 gene test detects mutations that cause Refsum disease, a peroxisomal biogenesis disorder in which the body cannot metabolise phytanic acid. It is ordered when a patient presents with night blindness (retinitis pigmentosa), loss of smell, peripheral neuropathy, or gait disturbance. Early genetic diagnosis enables prompt dietary management to prevent irreversible neurological and visual damage.
2. How should I prepare for the PEX7 NGS genetic test?
No fasting is required. A pre-test genetic counselling session is mandatory to construct a family pedigree and document clinical history. Provide a detailed list of all current medications, supplements, and any prior relevant laboratory or imaging results to the genetic counsellor before sample collection.
3. What does the test procedure involve?
A standard peripheral blood sample (5–10 mL in EDTA tubes) is collected via venipuncture. The sample is transported under temperature-controlled conditions to our ISO-accredited laboratory. DNA extraction and next-generation sequencing of the PEX7 gene are performed, followed by bioinformatic analysis and variant interpretation.
4. What do the results mean and what are the next steps?
A positive result identifies a disease-causing mutation in the PEX7 gene. When combined with elevated plasma phytanic acid, this confirms Refsum disease. Immediately consult a metabolic specialist to initiate a low-phytanic-acid diet and coordinate multidisciplinary care. A negative result does not entirely rule out the condition if clinical suspicion remains high.
5. Is genetic counselling available and what does it entail?
Yes, genetic counselling is provided before and after testing. The session includes a detailed family history assessment, discussion of inheritance patterns (autosomal recessive for Refsum disease), explanation of possible outcomes, and guidance on reproductive and family planning options if applicable.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Accreditation
- DHA Facility License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
- Corporate Lab Branding: DNA Labs UAE.
- ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
- Compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Adherent to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical safety governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
- All genetic data stored on UAE-based secure servers in accordance with PDPL guidelines.
Clinical & Logistical Metadata
| Test Name | PEX7 Gene (Refsum Disease) Genetic Test – Next-Generation Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole Blood (EDTA) – Peripheral Blood |
| Methodology Used | Next-Generation Sequencing (Illumina) with Sanger confirmation |
| ICD-10-CM Code | E71.4 |
| LOINC Code | 94219-9 |
| DHA Facility License & Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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