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Test Price

2,800 AED

✅ Home Collection Available

HGD Gene Alkaptonuria Genetic Test in UAE | 2800 AED | DHA Licensed Diagnostics

Executive Summary & Core Metrics

99.9% Diagnostic Sensitivity – ISO 9001:2015 Accredited Laboratory (Cert: INT/EGQ/2509DA/3139)

Hospital‑Grade VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (8 AM – 11 PM)

Complimentary Telephonic Post‑Test Clinical Guidance with Expert Genetic Interpretation

Direct Insurance Billing Verification – Send your policy via WhatsApp: +971 54 548 8731

Test Price: 2,800 AED

Turnaround: 3–4 Weeks

Sample: Whole Blood / FTA Card / Extracted DNA

DHA License: 1143

Test Overview & Methodology

The HGD gene (homogentisate 1,2‑dioxygenase) NGS test identifies pathogenic variants responsible for Alkaptonuria, a rare autosomal recessive metabolic disorder that causes homogentisic acid accumulation, leading to dark urine and ochronosis. This next‑generation sequencing assay reads the entire HGD gene coding region to detect even rare pathogenic mutations with greater than 99.9% analytical accuracy. DNA is extracted from blood or FTA card, enriched for the HGD gene, sequenced on a high‑throughput platform, and analysed by bioinformatic pipelines against global reference databases. Results are interpreted according to ACMG guidelines.

Feature Our Test (NGS Panel) Closest Alternative (Sanger Sequencing)
Analytical Sensitivity Greater than 99.9% for single nucleotide variants and small indels Approximately 98% for targeted regions only
Coverage Full gene coding regions plus splice sites Selected exons, may miss deep intronic variants
Turnaround Time 3–4 weeks 2–3 weeks (limited coverage)

Physician Insight & Safety Protocols

“The HGD NGS assay offers definitive molecular confirmation for Alkaptonuria with exceptional accuracy. However, clinical correlation with phenotypic markers such as urine darkening upon standing and ochronotic joint degeneration remains essential. I always recommend pairing genetic results with a comprehensive metabolic evaluation to guide management decisions.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Medication Advisory

⚠️ Do not discontinue any prescribed medication without consulting your attending physician.

Absolute Exclusion Criteria & Emergency Red Flags

  • Active bleeding disorder or severe anaemia (for venipuncture)
  • Patient unable to give informed consent; for minors, DHA‑compliant guardian consent is mandatory
  • Recent transfusion (whole blood) within 2 weeks – may interfere with DNA integrity
  • Seek emergency care if you experience sudden severe joint pain, dark or black urine with fever, or acute confusion – these are not attributable to the test itself but may indicate a metabolic crisis.

Patient FAQ & Clinical Guidance

1. How does the HGD gene NGS test actually work?

This next‑generation sequencing test reads the entire HGD gene coding region to detect even rare pathogenic mutations with greater than 99.9% analytical accuracy. The DNA is extracted from blood or FTA card, enriched for the HGD gene, sequenced on a high‑throughput platform, and analysed by bioinformatic pipelines against global reference databases. Results are interpreted according to ACMG guidelines.

2. Who should consider taking this test in the UAE?

Any individual with clinical suspicion of Alkaptonuria (dark urine, ochronosis, unexplained arthritis) or a family history of the condition should seek this test. It is also recommended for carrier screening in consanguineous families, a prevalent scenario in the UAE, and for pre‑marital genetic counselling to assess reproductive risk.

3. What is the turnaround time and how do I get my results?

Results are delivered within 3 to 4 weeks; the complete report includes variant classification, clinical correlation, and genetic counselling recommendations. You will receive a secure PDF via email, and a DHA‑licensed physician will call to explain the findings. The price is 2,800 AED, inclusive of home collection and post‑test consultation.

4. Is genetic counselling included with the test?

Yes, a mandatory pre‑test genetic counselling session is included to draw a pedigree chart of family members affected with Alkaptonuria and to discuss implications of results. Post‑test counselling is also provided to explain findings and guide next steps.

UAE Regulatory & Data Privacy Adherence

All services fully comply 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. Clinical testing safety and patient consent are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability. The laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139).

Clinical & Logistical Metadata

Test Name HGD Gene Alkaptonuria NGS Sequencing Test
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Whole Blood (EDTA), FTA Card, or Extracted DNA
Methodology Used Next‑Generation Sequencing (NGS) – Full Gene Coding Regions plus Splice Sites
ICD-10-CM Code E70.29
LOINC Code 90562-2
DHA Facility License & Laboratory Address DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE

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