Test Price
2,800 AED✅ Home Collection Available
PTS Gene Sequencing for BH4-Deficient Hyperphenylalaninemia Type A Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Test Overview & Methodology
The PTS gene sequencing test is a next-generation DNA analysis that detects pathogenic variants in the PTS gene, confirming BH4-deficient hyperphenylalaninemia type A. This genetic test provides definitive molecular diagnosis to guide targeted therapy with sapropterin or neurotransmitter precursors.
| Feature | Our Test – PTS NGS | Closest Alternative – Biochemical/BH4 Loading |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity for point mutations, CNVs | Variable; cannot distinguish all biopterin defects |
| Methodology | Next‑Generation Sequencing (LC‑MS/MS validated) | Blood phenylalanine + BH4 loading test |
| Turnaround Time | 3 to 4 Weeks | 1–2 weeks (but may require repeat) |
| Price (AED) | 2,800 | 2,200 – 3,500 (additional testing often needed) |
| Regulatory Alignment | DHA/MOHAP Approved, ISO 9001:2015 | Variable laboratory standards |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I understand the concern that comes with awaiting a definitive diagnosis for your child’s metabolic condition. This test provides the molecular certainty needed to distinguish BH4-deficient hyperphenylalaninemia type A from other forms, enabling targeted therapy with sapropterin or neurotransmitter precursors. Please always correlate this result with the clinical picture and a metabolic specialist’s assessment.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory – Medication Continuation
⚠️ Medication Warning
Do not discontinue any prescribed medication, especially neurotransmitter or dietary therapy, without consulting your doctor.
Safety Exclusion & Emergency Red Flags
🚨 Exclusion & Red Flags
- Exclusion Criteria: Recent blood transfusion (<4 weeks) may interfere with DNA extraction; inability to provide informed consent for a minor as per UAE Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Red Flags – Seek Immediate Emergency Care: If the patient develops acute lethargy, seizures, hypothermia, or loss of consciousness, call 998 or visit the nearest emergency department immediately.
Patient FAQ & Clinical Guidance
1. What does the PTS gene test detect?
This test identifies disease-causing mutations in the PTS gene responsible for BH4-deficient hyperphenylalaninemia type A, a treatable metabolic disorder. It fully sequences the 6-pyruvoyltetrahydropterin synthase gene, revealing point variants, small indels, and copy number changes that disrupt tetrahydrobiopterin synthesis.
2. Why is Next-Generation Sequencing (NGS) employed for this?
Next-Generation Sequencing provides comprehensive analysis of the entire PTS gene, detecting point mutations, deletions, and copy number variations with high accuracy. It surpasses traditional Sanger sequencing in throughput and sensitivity, while LC-MS/MS validation ensures no false-negative calls.
3. How long must I wait for the results?
Results are typically available within 3 to 4 weeks due to rigorous sequencing, bioinformatics analysis, and clinical interpretation. Expedited reporting may be arranged for urgent neonatal cases upon request and DHA authorization.
UAE Regulatory & Data Privacy Adherence
Your Data is Protected
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, stored securely, and only accessed by authorized clinical personnel for diagnostic purposes. Patient consent is obtained per Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | PTS Gene Sequencing (BH4-Deficient Hyperphenylalaninemia Type A) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or DNA |
| Methodology Used | Next-Generation Sequencing (LC-MS/MS validated) |
| ICD-10-CM Code | E70.1 |
| LOINC Code | 21768-8 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE Corporate Lab Branding: DNA Labs UAE |
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