Test Price
2,800 AED✅ Home Collection Available
PAH Gene Phenylketonuria (PKU) Genetic Test in UAE – 2,800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO‑certified next‑generation sequencing.
Premium Logistics: Hospital‑grade home collection via temperature‑controlled cold‑chain.
Mobile Phlebotomy: Complimentary home blood draw within Dubai (8 AM – 11 PM).
Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
This comprehensive NGS test sequences the entire PAH gene, detecting pathogenic variants linked to phenylketonuria. Results include telephonic genetic counselling and a downloadable PDF report.
Test Overview & Methodology
The PAH gene next‑generation sequencing (NGS) test interrogates all coding exons, intron‑exon boundaries, and known regulatory regions of the PAH gene. Variants are interpreted against ACMG guidelines, and confirmatory Sanger sequencing is performed for any clinically significant findings. This method delivers a diagnostic sensitivity of >99.9% for classical phenylketonuria and milder hyperphenylalaninemia.
| Feature | Our NGS Test | Closest Alternative |
|---|---|---|
| Precision & Coverage | 99.9% sensitivity; full gene sequence + splice‑site analysis | Targeted mutation panel (~85% detection rate) |
| Methodology | Next‑Generation Sequencing (NGS) | Sanger or biochemical newborn screening |
| Turnaround Time | 3 to 4 weeks | 5–8 weeks |
| Sample Type | Whole blood, extracted DNA, or FTA card | Venous blood only |
Physician Insight & Safety Protocols
“While the diagnosis of phenylketonuria can be overwhelming, early identification through comprehensive genetic testing empowers families to implement dietary strategies that prevent intellectual disability. I recommend that all variant results be correlated with plasma phenylalanine levels and reviewed by a metabolic specialist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Clinical Guidance
⚠️ Never discontinue prescribed metabolic formula or phenylalanine‑restricted diet without consulting your physician. Adjusting treatment based solely on genetic results can lead to nutritional imbalance.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients who received a blood transfusion or bone marrow transplant within the last 90 days (may yield mixed DNA).
- Exclusion: Inability or refusal to provide a pedigree chart or clinical history for genetic counselling (essential for accurate interpretation).
- ER Red Flag: If the patient develops vomiting, seizures, severe lethargy, or unusual body odour, seek emergency medical attention immediately — these may indicate acute metabolic crisis.
- ER Red Flag: Sudden neurological deterioration in a known PKU patient demands urgent plasma phenylalanine testing, not solely genetic review.
Patient FAQ & Clinical Guidance
1. What conditions does the PAH gene test detect?
This NGS analysis identifies pathogenic variants in the PAH gene that cause classical phenylketonuria (PKU) and milder hyperphenylalaninemia. The test also aids carrier detection and family planning, guiding early dietary intervention to prevent intellectual disability.
2. How is the sample collected for the PAH gene test?
A blood draw or a finger‑prick dried blood spot on an FTA card is sufficient for DNA extraction. Our certified mobile phlebotomist can perform the collection at your home, office, or hospital within 8 AM – 11 PM. For infants, a heel‑prick sample is accepted.
3. How long do results take and how will I receive them?
Results are typically available within 3 to 4 weeks. They are delivered via a secure online portal, and a board‑certified genetic counsellor provides a complimentary telephonic consultation to explain the findings and recommend next steps.
UAE Regulatory & Data Privacy Adherence
This test is performed at a DHA‑licensed facility (License: 1143) and complies 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 and handled under strict confidentiality agreements. The laboratory is accredited under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | PAH Gene Phenylketonuria (PKU) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card (Dried Blood Spot) |
| Methodology Used | Next‑Generation Sequencing (NGS) |
| ICD-10-CM Code | E70.0 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians