Test Price
2,600 AED✅ Home Collection Available
Nx Gen Sequencing: Alkaptonuria Diagnostic Test in UAE – Whole Exome & HGD Gene Analysis
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity achieved through ISO-accredited next-generation sequencing (NGS) with orthogonal Sanger confirmation. Laboratory certified under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Temperature-controlled cold-chain home collection via VIP mobile phlebotomy available daily from 8 AM to 11 PM. All samples handled under strict ISO-compliant transport protocols.
- Clinical Guidance: Post-test telephonic result interpretation provided by a DHA-licensed consultant medical geneticist. Printed report includes variant classification per ACMG guidelines with actionable clinical annotations.
- Insurance & Billing: Direct billing verification available via WhatsApp at +971 54 548 8731. Submit your insurance policy details for pre-authorisation prior to sample collection.
Test Overview & Methodology
This comprehensive next-generation sequencing (NGS) assay combined with Sanger validation detects pathogenic and likely pathogenic variants in the HGD gene, providing a definitive molecular diagnosis of alkaptonuria – an autosomal recessive disorder of tyrosine metabolism. The test utilises whole-exome capture with deep targeted sequencing of the HGD coding region and flanking intronic boundaries, enabling detection of single-nucleotide variants, small insertions and deletions, and splice-site alterations. Results are reported with full variant annotation, population frequency data, and in silico pathogenicity predictions. This assay is designed for neurologists, metabolic specialists, and clinical geneticists managing patients presenting with suspected alkaptonuria, ochronotic arthropathy, or unexplained homogentisic aciduria.
| Feature | Our Nx Gen Sequencing Assay | Alternative: Targeted Sanger Only |
|---|---|---|
| Methodology | NGS whole-exome capture + deep HGD coverage with Sanger confirmation (analytical sensitivity 99.9%) | Single-gene Sanger sequencing without orthogonal validation |
| Turnaround Time | 40 working days (comprehensive bioinformatics, variant filtering, and clinical curation) | 20–30 working days |
| Genomic Coverage | Whole exome plus deep HGD sequencing – captures atypical and deep intronic variants | HGD coding exons only |
| Clinical Utility | Neurological, metabolic, and research-grade reporting with secondary findings analysis optional | Restricted to alkaptonuria diagnosis confirmation |
Physician Insight & Safety Protocols
"Next-generation sequencing provides a powerful diagnostic tool for alkaptonuria, but results must always be contextualised within the patient's full clinical presentation, family pedigree, and metabolic workup. A negative NGS result does not exclude the diagnosis if clinical suspicion remains high. Patients and clinicians should always correlate genetic findings with urine homogentisic acid levels and radiographic evidence of ochronosis before finalising management decisions."
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Pre-Test Advisory & Patient Safety
Mandatory Genetic Counselling Requirement
All patients must complete a pre-test genetic counselling session conducted by our DHA-licensed clinical geneticist prior to sample collection. This session covers the scope of NGS testing, potential incidental findings, variant interpretation limitations, and the implications of results for family members. Written informed consent using the Whole Exome Sequencing Consent Form (Form 37) is mandatory. In accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability, the ordering physician retains full clinical responsibility for diagnosis and treatment decisions following receipt of the genetic report.
Exclusion Criteria & Safety Red Flags
Contraindications for Sample Collection
- Patients under 18 years must provide written consent from a legal guardian; genetic counselling for the minor is mandatory.
- Known coagulopathy, severe anaemia, or concurrent anticoagulant therapy requires clinician clearance before venipuncture.
- Sample must be shipped refrigerated between 2°C and 8°C; do not freeze. Improper thermal handling invalidates results and will require recollection at full cost.
- If you experience acute joint pain, darkening urine, or sudden vision changes during the waiting period, seek emergency medical care immediately.
Patient FAQ & Clinical Guidance
1. What is the Nx Gen Sequencing Alkaptonuria test, and why has it been recommended for me?
This test identifies disease-causing variants in the HGD gene, providing a molecular confirmation of alkaptonuria to guide metabolic and orthopaedic management. Alkaptonuria results from deficient homogentisate 1,2-dioxygenase activity, leading to accumulation of homogentisic acid and progressive ochronosis. Neurologists and metabolic specialists use this comprehensive NGS assay to establish a definitive diagnosis, differentiate alkaptonuria from other tyrosine metabolism disorders, and assess carrier status within families. The test is recommended when clinical features such as dark urine, chronic joint pain, or echocardiographic evidence of aortic valve thickening suggest the diagnosis.
2. How is the sample collected and what are the transport requirements?
A venous blood sample of 10 mL is drawn into two lavender-top EDTA tubes, maintained at refrigerated temperature (2–8°C) during transit, and must never be frozen. The completed Whole Exome Sequencing Consent Form (Form 37) must accompany the sample. Our VIP mobile phlebotomy team provides temperature-controlled cold-chain home collection daily between 8 AM and 11 PM. Alternatively, you may visit our Dubai Healthcare City laboratory for sample submission. Coordinate with our logistics team via WhatsApp at +971 54 548 8731 to schedule collection.
3. How are my results interpreted and what do they mean for my long-term health?
A positive result confirms a molecular diagnosis of alkaptonuria and supports lifelong surveillance by a metabolic specialist and orthopaedic surgeon to prevent or manage complications. The report includes detailed variant classification per ACMG/AMP guidelines, population frequency data, and a telephonic consultation with our consultant medical geneticist to explain findings and coordinate specialist referral. A negative result reduces but does not exclude the possibility of alkaptonuria; if clinical suspicion persists, biochemical testing for urinary homogentisic acid and imaging studies are recommended. All patients receive a printed genetic counselling summary and a direct contact number for follow-up questions.
4. What are the limitations of this NGS test that I should be aware of?
While highly sensitive, NGS may not detect large genomic rearrangements, deep intronic variants, or mosaic mutations in the HGD gene. Additionally, variants of uncertain significance (VUS) may be reported and require further segregation analysis or functional studies. The test is validated for diagnostic purposes but does not assess disease severity or predict age of onset. A formal genetics consultation is strongly advised before any treatment decisions are made based on test results.
UAE Regulatory & Data Privacy Adherence
Data Protection & Confidentiality: All genetic data generated by this assay is processed and stored in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). The laboratory operates under the regulatory framework of Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring that your genomic information is encrypted, access-controlled, and never shared with third parties without explicit written consent. Your results are retained for a maximum of 10 years as per national archival requirements, after which all identifiable data is permanently anonymised. The DHA Facility License No. 1143 guarantees that all laboratory operations meet the highest standards of clinical governance and quality management set by the Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | Next-Generation Sequencing (NGS) – Alkaptonuria (HGD Gene) with Sanger Confirmation |
| Price (AED) | 2,600 AED |
| Turnaround Time | 40 working days from sample receipt at laboratory |
| Sample Type / Matrix | Peripheral Whole Blood – 10 mL in two Lavender Top (EDTA) tubes; refrigerated transport (2–8°C); VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) with whole-exome capture and deep HGD gene targeting, followed by Sanger sequencing confirmation of all reported variants; variant classification per ACMG/AMP guidelines |
| ICD-10-CM Code | E70.29 |
| LOINC Code | 88040-2 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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