Test Price
2,800 AED✅ Home Collection Available
PHYH Gene Refsum Disease Genetic Test – NGS Analysis | 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, Available Daily 8 AM – 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in Result Interpretation by a DHA-Licensed Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This NGS‑based test sequences the entire coding region of the PHYH gene to diagnose Refsum disease, a rare autosomal recessive disorder of phytanic acid metabolism. The high‑depth sequencing ensures detection of pathogenic variants even in low‑level mosaicism, guiding early dietary and clinical management.
| Feature | Our Test (PHYH NGS) | Closest Alternative |
|---|---|---|
| Method | Full‑gene NGS (Next Generation Sequencing) | Sanger sequencing of selected exons or biochemical assay |
| Detection Power | >99.9% analytic sensitivity for SNVs & indels | >95% for targeted regions; misses deep intronic & copy‑number variants |
| Turnaround Time | 3–4 Weeks | 2–3 Weeks (limited scope) |
| Report Depth | Variant classification per ACMG/AMP guidelines | Often variant of uncertain significance (VUS) with less clinical annotation |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I emphasise that this test must be interpreted within the full clinical and family context. A pathogenic variant confirms Refsum disease and enables targeted dietary intervention; a negative result reduces suspicion but does not exclude alternative peroxisomal disorders. Pre-test genetic counselling to construct a three-generation pedigree is strongly recommended. Discuss all results with your referring clinician before making any treatment changes.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License 9294403
Advisory Notice
- Do not discontinue prescribed medication without consulting your doctor. This test does not replace acute clinical management.
- Pre-Test Requirement: A genetic counselling session to draw a pedigree chart of family members affected with Refsum disease is strongly advised before sample collection.
- Emergency Red Flags: If you experience sudden neurological deterioration, vision loss, or severe peripheral neuropathy, seek emergency medical attention immediately—do not wait for test results.
Exclusion Criteria
- Not performed on individuals unable to give informed consent or on asymptomatic minors without clinical indication, in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Patients with acute metabolic crisis should receive emergency medical stabilization before sample collection.
Patient FAQ & Clinical Guidance
1. What is the PHYH gene test and why is it performed?
The PHYH gene test sequences the entire PHYH coding region to detect pathogenic variants causing Refsum disease, a rare metabolic disorder affecting phytanic acid breakdown. This test is ordered when clinical signs—retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia—suggest a peroxisomal biogenesis defect, or for familial cascade testing after an index case is identified.
2. How accurate is this NGS test compared to traditional methods?
Our ISO‑accredited NGS test achieves >99.9% analytical sensitivity for single nucleotide variants and small indels, outperforming conventional Sanger sequencing in detecting mosaic mutations. Deep sequencing coverage (typically ≥100×) reduces the risk of allele dropout and allows reliable calling of variants even in low‑quality DNA from dried blood spots.
3. What do the results mean for my health and family planning?
A pathogenic variant confirms Refsum disease and enables dietary management and family cascade testing; a negative result reduces the likelihood but does not eliminate the possibility of a different genetic cause. Even when both parents are carriers, each pregnancy has a 25% recurrence risk. Genetic counselling will translate your report into a personalised action plan.
UAE Regulatory & Data Privacy Adherence
This 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 encrypted, access-controlled, and processed under ISO 9001:2015 standards (Cert: INT/EGQ/2509DA/3139). Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | PHYH Gene Refsum Disease Genetic Test – NGS Analysis |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot |
| Methodology Used | Next Generation Sequencing (NGS), Full-Gene Analysis |
| ICD-10-CM Code | E71.420 |
| LOINC Code | 21673-7 |
| 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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