Test Price
2,800 AED✅ Home Collection Available
ALDOA Gene Glycogen Storage Disease Type 12 (GSD XII) Genetic Test | 2800 AED | DHA Licensed Facility
Executive Summary & Core Metrics
Test Overview & Methodology
The ALDOA NGS test interrogates the entire coding region and conserved splice sites of the aldolase A gene to detect pathogenic variants causative of Glycogen Storage Disease Type 12 (GSD XII). This rare autosomal recessive disorder presents with exercise intolerance, haemolytic anaemia, and episodic rhabdomyolysis. Our assay is indicated for individuals with clinical suspicion of GSD XII, unexplained haemolysis with myopathy, or a positive family history. The comprehensive clinical report includes variant classification per ACMG/AMP guidelines, population frequency data, and biochemical correlation recommendations.
| Feature | Our Test (DHA‑Licensed) | Closest Alternative |
|---|---|---|
| Precision | Full‑Gene NGS with >99.9% Analytical Sensitivity | Single‑Exon Sanger Sequencing (Limited Coverage) |
| Method | Next Generation Sequencing (Illumina NovaSeq™) | Targeted Mutation Panel (Partial Analysis) |
| Turnaround | 3–4 Weeks with Comprehensive Clinical Report | 6–8 Weeks (Conventional Labs) |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I see families who have waited years for a molecular answer to exercise intolerance and anaemia. The ALDOA NGS assay offers a definitive diagnosis in a single workflow, but the result must always be interpreted within the full metabolic, haematological, and family context. I strongly recommend that every patient completes a post‑test counselling session so the implications for siblings, exercise planning, and surveillance are fully addressed.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Clinical Advisory
Medication & Management Guidance
Do not discontinue or alter any prescribed therapy without consulting your metabolic specialist. This genetic test provides diagnostic confirmation and risk stratification; it does not replace clinical decision‑making by your primary physician. All treatment adjustments should be made under direct medical supervision to avoid metabolic decompensation.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: This test is not intended for acute metabolic crisis diagnosis. The patient must be haemodynamically stable before sample collection.
- Exclusion: Do not use as a standalone prenatal test without a confirmed familial mutation and multidisciplinary counselling.
- Red Flag: If you experience severe hypoglycaemia (blood glucose <50 mg/dL), seizures, loss of consciousness, or rhabdomyolysis (dark urine, severe muscle pain), discontinue all non‑essential procedures and seek emergency medical care immediately.
Patient FAQ & Clinical Guidance
1. How accurate is the NGS ALDOA test for diagnosing GSD XII?
Our assay achieves >99.9% analytical sensitivity for single‑nucleotide variants and small insertions/deletions across the entire ALDOA coding region. Clinical sensitivity is exceptionally high when testing individuals with a pre‑test probability supported by haemolytic anaemia, myopathy, or a known family mutation. All reported variants are confirmed by Sanger sequencing and classified according to ACMG/AMP standards.
2. What sample types are accepted, and can I use a routine lab draw?
We accept whole blood (EDTA, 3–5 mL), extracted DNA (minimum 1 µg), or a dried blood spot on an FTA card. While routine lab samples are accepted, our VIP home collection ensures a documented chain of custody, cold‑chain integrity from draw to processing, and priority handling — factors that significantly reduce the risk of sample degradation for high‑complexity NGS workflows.
3. What preparation do I need before the test?
A mandatory pre‑test genetic counselling session is required to document a three‑generation pedigree, discuss inheritance patterns, and review possible outcomes. No fasting or medication changes are necessary unless specifically directed by your referring physician. The session also ensures informed consent and addresses any psychosocial considerations before testing proceeds.
4. How will I receive my results, and what support is available afterward?
Results are delivered in a comprehensive clinical report within 3–4 weeks. A complimentary telephonic post‑test session with a certified genetic counsellor is included to explain variant implications, recurrence risks, and surveillance recommendations. A written summary is also provided for your metabolic specialist to guide ongoing care.
UAE Regulatory & Data Privacy Adherence
- Personal Data Protection: All genetic data are processed exclusively in compliance with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) and stored on sovereign UAE‑based servers with encryption at rest and in transit.
- Health Data Governance: Information and communication technology used in sample tracking and reporting adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Medical Liability & Patient Consent: Clinical testing safety and informed consent procedures follow Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Quality Management: Our laboratory operates under an ISO 9001:2015 certified quality management system (Cert: INT/EGQ/2509DA/3139), ensuring traceability, accuracy, and continuous improvement.
Clinical & Logistical Metadata
| Test Name | ALDOA Gene Glycogen Storage Disease Type 12 (GSD XII) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Blood Spot |
| Methodology Used | Next Generation Sequencing (NGS) – Illumina NovaSeq™ with Sanger confirmation |
| ICD-10-CM Code | E74.09 |
| LOINC Code | 82847-5 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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