Test Price
2,800 AED✅ Home Collection Available
ALDH5A1 Gene Succinic Semialdehyde Dehydrogenase Deficiency Genetic Test in UAE
Executive Summary & Core Metrics
- ✓Diagnostic Accuracy: 99.9% analytical sensitivity and specificity, delivered via ISO 9001:2015‑certified laboratory processing (Cert: INT/EGQ/2509DA/3139).
- ✓Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily from 8 AM to 11 PM.
- ✓Clinical Guidance: Complimentary telephonic post‑test clinical interpretation with a DHA‑licensed specialist once results are finalised.
- ✓Insurance Support: Direct billing verification and pre‑approval assistance via WhatsApp at +971 54 548 8731.
Price: 2,800 AED | Turnaround Time: 3 to 4 weeks | DHA Facility License: 1143
Test Overview & Methodology
The ALDH5A1 Next‑Generation Sequencing test comprehensively analyses all coding exons, splice junctions, and known promoter regions of the ALDH5A1 gene to definitively diagnose succinic semialdehyde dehydrogenase (SSADH) deficiency—a rare neurometabolic disorder that leads to excessive accumulation of gamma‑hydroxybutyric acid (GHB) in the central nervous system. This assay is the gold standard for molecular confirmation in patients presenting with developmental delay, hypotonia, ataxia, or refractory seizures.
| Feature | Our Advanced NGS Test | Standard Sanger Sequencing |
|---|---|---|
| Technology | Massively parallel Next‑Generation Sequencing (NGS) with deep, uniform coverage | Capillary‑based single‑amplicon Sanger sequencing |
| Analytical Sensitivity | >99.9% for single nucleotide variants, small indels, and exon‑level copy number changes | ~95% for exonic point mutations; limited variant detection |
| Variant Coverage | All 10 exons, canonical splice sites, known deep intronic pathogenic variants, and promoter region | Individual exons amplified one by one; often misses intronic or regulatory mutations |
| Turnaround Time | 3 to 4 weeks (guaranteed) | 4 to 6 weeks, often longer for full gene coverage |
| Clinical Utility | Comprehensive report with ACMG variant classification, copy number assessment, and clinical correlation remarks | Targeted genotype only; limited to known mutations |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I recognise the deep emotional weight that families carry when seeking a molecular diagnosis for a suspected neurometabolic condition. The ALDH5A1 NGS assay delivers exceptional analytical depth, yet every result must be interpreted within the full clinical and biochemical context of the patient. A confirmed diagnosis does not define a child’s potential—early, multidisciplinary intervention can substantially improve long-term developmental outcomes.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Safety Advisory
Critical Medication Advice
Do not discontinue any prescribed medication, anti‑epileptic drugs, or metabolic regimen without explicit instruction from your supervising consultant physician. Abrupt changes can precipitate life‑threatening metabolic crises. Always consult your specialist before making any adjustments.
Exclusion Criteria & Red Flags
Exclusion Criteria (do not proceed without specialist clearance):
- Infants younger than 3 months unless referred by a neonatologist with biochemical evidence of SSADH deficiency.
- Patients presenting with an acute decompensated metabolic episode (seizures, severe dystonia, hyperammonemia) – stabilise first, then draw sample.
- Individuals (or guardians) unable or unwilling to complete the mandatory pre‑test genetic counselling session.
Emergency Red Flags – Seek Immediate Hospital Care:
- Sudden onset of prolonged seizures or status epilepticus.
- Rapid neurological deterioration with altered consciousness or coma.
- Severe hypotonia with respiratory distress or apnoea.
- Acute ataxia preventing safe ambulation.
For life‑threatening emergencies, call UAE ambulance at 998 immediately.
Patient FAQ & Clinical Guidance
1. What is succinic semialdehyde dehydrogenase (SSADH) deficiency and how is it inherited?
A: SSADH deficiency is an autosomal recessive neurometabolic disorder resulting from biallelic mutations in the ALDH5A1 gene causing toxic GHB accumulation in the central nervous system. Both copies of the gene must carry a mutation; parents are typically asymptomatic carriers. Symptoms often emerge in infancy or early childhood and include hypotonia, developmental delay, speech impairment, and seizures. Genetic counselling clarifies recurrence risk (25% for each pregnancy) and supports family planning decisions.
2. What exactly does the ALDH5A1 Genetic Test detect?
A: This NGS‑based test identifies clinically relevant pathogenic variants across all coding exons, canonical splice sites, and selected regulatory regions of the ALDH5A1 gene. It detects single nucleotide variants (point mutations), small insertions/deletions (indels), and exon‑level copy number variations (deletions/duplications). The report follows ACMG guidelines, classifying variants as pathogenic, likely pathogenic, or variants of uncertain significance, and correlates findings with the patient's phenotype when clinical details are provided.
3. Is genetic counselling mandatory before undergoing this test?
A: Yes, an in‑depth pre‑test genetic counselling session is mandatory to ensure fully informed consent, discuss inheritance patterns, and prepare families for result interpretation. During the session, a certified genetic counsellor will construct a three‑generation pedigree, explain the implications of a positive, negative, or inconclusive finding, and address psychological, ethical, and legal considerations. This step complies with Federal Decree-Law No. 4 of 2016 on Medical Liability regarding patient consent and safeguards your rights under UAE PDPL. We arrange the counselling as part of the home collection workflow.
4. How should I prepare for the blood draw and what happens after sample collection?
A: No special preparation such as fasting is required for this genetic test. The sample (peripheral whole blood collected in EDTA tubes) is obtained via our VIP mobile phlebotomy service at your preferred location between 8 AM and 11 PM. After collection, the specimen is transported under temperature-controlled cold-chain logistics to our ISO 9001:2015‑certified laboratory. Results are typically ready within 3 to 4 weeks, and a complimentary telephonic consultation with a DHA‑licensed specialist is provided to interpret the findings.
UAE Regulatory & Data Privacy Adherence
All genetic data and personal health information are processed in strict 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. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE (DHA Facility License 1143) maintains rigorous data encryption, access control, and audit trail mechanisms to ensure your privacy and security throughout the testing lifecycle.
Clinical & Logistical Metadata
| Test Name | ALDH5A1 Gene Succinic Semialdehyde Dehydrogenase Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube) |
| Methodology Used | Next-Generation Sequencing (NGS) – full coding exons, splice junctions, and promoter region |
| ICD-10-CM Code | E72.8 (Other specified disorders of amino-acid metabolism) |
| LOINC Code | 90521-1 (ALDH5A1 gene mutation analysis in Blood by NGS) |
| DHA Facility License & Address | License 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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