Test Price
2,800 AED✅ Home Collection Available
HPD Gene Tyrosinemia Type 3 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
This high-depth NGS-based genetic test sequences the entire HPD gene to detect pathogenic variants linked to hereditary Tyrosinemia Type 3, a rare autosomal recessive metabolic disorder. The assay provides full exon coverage with CNV detection capability, achieving 99.9% diagnostic sensitivity. Results are interpreted by a Consultant Medical Geneticist and include a complimentary telephonic post-test consultation. The test is processed under ISO 9001:2015 accredited protocols (Cert: INT/EGQ/2509DA/3139) and aligned with GRCh38 bioinformatic pipelines.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity – 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 to 11 PM).
- Clinical Guidance: Complimentary telephonic post-test clinical result interpretation by a Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced genetic test provides comprehensive sequencing of the entire HPD gene to detect pathogenic variants linked to Tyrosinemia Type 3, using high-depth Next-Generation Sequencing (NGS) with bioinformatic pipelines aligned to GRCh38. The assay enables precise molecular diagnosis, carrier screening, and research insights for UAE patients and clinicians. A genetic counselling session to construct a three-generation pedigree chart of family members affected with Tyrosinemia Type 3 is strongly recommended prior to testing. Clinical history of the proband is required. No specific medication avoidance is mandated and fasting is not required for sample collection.
| Feature | Our Test (NGS DNA) | Closest Alternative (Biochemical) |
|---|---|---|
| Precision | 99.9% – full gene coverage with CNV detection | Limited to enzyme/amino acid quantification (HPLC) |
| Methodology | NGS (100bp PE), Sanger validation, GRCh38 alignment | Plasma amino acid profiling (non-genetic) |
| Turnaround Time | 3–4 Weeks | 5–7 Working Days |
Physician Insight & Safety Protocols
“Every genetic result forms a single piece of a larger clinical mosaic. I strongly advise all patients to correlate this HPD NGS report with biochemical findings and detailed family history under the supervision of a qualified metabolic specialist. Your treating physician remains your primary partner in interpreting these results and guiding management decisions. – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403.”
⚠️ Medication Advisory
Do not discontinue prescribed medication or modify your treatment plan without consulting your doctor.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Inadequate sample volume (<1 mL EDTA blood or insufficient FTA spot) or unlabeled specimens – recollection required.
- Exclusion: Samples not shipped in cold-chain (2–8 °C) within 24 hours will be rejected and flagged.
- Exclusion: Minors must provide legal guardian consent per Federal Decree-Law No. 4 of 2016 on Medical Liability; no unconsented pediatric draws.
- Emergency Red Flag: If the patient develops acute neurological deterioration, seizures, or unexplained metabolic acidosis while awaiting results, seek immediate emergency medical care – do NOT wait for the test report.
- Red Flag: A positive result does not substitute for clinical evaluation; contact your doctor urgently if symptoms worsen.
Patient FAQ & Clinical Guidance
1. What is the HPD Gene Tyrosinemia Type 3 NGS test used for?
This test sequences the entire HPD gene to detect mutations causing hereditary Tyrosinemia Type 3, a rare autosomal recessive metabolic disorder characterized by elevated tyrosine levels and neurological symptoms. The genetic result aids in confirming diagnosis, guiding management, and enabling carrier testing for family members.
2. How is the sample collected and what are the preparation steps?
A certified phlebotomist from DNA Labs UAE will collect either a peripheral whole blood sample (EDTA tube), a dried blood spot on an FTA card, or you can provide extracted DNA. No fasting is required. The sample is transported under temperature-controlled cold-chain conditions to our CAP-accredited laboratory.
3. When will I receive my results and who will explain them?
Results are typically available within 3 to 4 weeks from sample receipt. A complimentary telephonic consultation with a Consultant Medical Geneticist is included to explain your findings in the context of your clinical history and family pedigree.
4. Does this test replace a clinical diagnosis from my metabolic specialist?
No, this genetic test is a diagnostic aid and must be interpreted alongside biochemical markers (plasma amino acids, urine organic acids) and clinical evaluation by a qualified metabolic specialist. The report should never be used as a standalone diagnostic tool.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance Framework
- Personal Data Protection: All patient genetic data is processed and stored in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information Governance: Data handling adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical Safety & Consent: Patient safety protocols and informed consent procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- DHA Licensing: DNA Labs UAE operates under DHA Facility License Number 1143, ensuring all laboratory practices meet Dubai Healthcare City Authority quality standards.
Clinical & Logistical Metadata
| Test Name | HPD Gene Tyrosinemia Type 3 Genetic Test – Next-Generation Sequencing (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM to 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) – 100bp Paired-End, Sanger Confirmation, GRCh38 Alignment, CNV Detection |
| ICD-10-CM Code | E70.29 |
| LOINC Code | 101368-9 |
| DHA Facility License & Address | Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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