Test Price
2,800 AED✅ Home Collection Available
ALDH5A1 Gene Succinic Semialdehyde Dehydrogenase Deficiency Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
اختبار الحمض النووي للجين ALDH5A1 لكشف نقص إنزيم نازع هيدروجين السكسينيك شبه الألدهيد في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary & Ground‑Truth Guarantees
- ✓Diagnostic Accuracy: 99.9% analytical sensitivity and specificity, delivered via ISO 9001:2015‑certified laboratory processing (Cert: INT/EGQ/2509DA/3139).
- ✓Premium Logistics: Paid Hospital‑Grade Home Collection with ISO‑certified cold‑chain transport and VIP mobile phlebotomy, available 8 AM – 11 PM, 7 days a week.
- ✓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.
دقة تشخيصية بنسبة 99.9%، خدمات سحب منزلي متطورة، ودعم تأميني مباشر عبر الواتساب. جميع النتائج صادرة عن مختبر حائز شهادة ISO 9001:2015 ومعتمدة من هيئة الصحة بدبي.
Overview: ALDH5A1 Genetic Test for SSADH Deficiency
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.
يقدم اختبار تسلسل الجين ALDH5A1 تحليلاً شاملاً للمنطقة المشفرة بالكامل لتشخيص نقص إنزيم نازع هيدروجين السكسينيك شبه الألدهيد (SSADH) – وهو اضطراب استقلابي عصبي نادر يؤدي إلى تراكم حمض جاما-هيدروكسي بيوتيريك. ويقدم هذا الاختبار تأكيدًا جزيئيًا قاطعًا للمرضى الذين يعانون من تأخر النمو ونقص التوتر العضلي والرنح والنوبات.
| 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 |
Consultant Clinical Insight & Safety Protocol
“As a clinician, I understand that awaiting genetic test results for a neurometabolic disorder can be profoundly emotional. The ALDH5A1 NGS assay is a highly sensitive diagnostic tool, but it must be interpreted within the full clinical and biochemical context of each patient. A positive result confirms the disease, yet it does not define your child’s future; early multidisciplinary intervention can significantly improve quality of life.”
— Dr. PRABHAKAR REDDY, DHA License No. 61713011
Medication Warning: 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.
Safety Alerts & 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
Q: 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. This means 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.
نقص إنزيم نازع هيدروجين السكسينيك شبه الألدهيد هو اضطراب وراثي جسدي متنحٍ ناتج عن طفرات في جين ALDH5A1، مما يؤدي إلى تراكم غير طبيعي لحمض جاما-هيدروكسي بيوتيريك في الجهاز العصبي المركزي. تظهر الأعراض عادةً في الطفولة المبكرة وتشمل نقص التوتر وتأخر النمو والرنح والنوبات.
Q: 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 can detect 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.
يكشف هذا الاختبار القائم على تقنية التسلسل من الجيل التالي (NGS) عن الطفرات الممرضة في جميع الإكسونات المشفرة ومواقع الوصل الجيني التقليدية والمناطق التنظيمية المختارة من جين ALDH5A1. يتم تصنيف الطفرات وفقًا لإرشادات الكلية الأمريكية لعلم الوراثة الطبية (ACMG) وتقديم تقرير متكامل.
Q: 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. 41 of 2024 (Article 87) and the CDS Law 2026 regarding minors, safeguarding your rights under UAE PDPL. We arrange the counselling as part of the home collection workflow.
نعم، الاستشارة الوراثية قبل الاختبار إلزامية لتقديم الموافقة المستنيرة وشرح مخاطر الوراثة وتفسير النتائج بدقة. تشمل الجلسة رسم شجرة العائلة وتوضيح التداعيات القانونية والأخلاقية، بما يتوافق مع المرسوم بقانون اتحادي رقم 41 لسنة 2024 وقانون خصوصية البيانات في دولة الإمارات.
Pre‑test Information: This requires a clinical history and a mandatory genetic counselling session to draw a pedigree chart of family members affected by SSADH deficiency. Blood collection in EDTA tubes, stable during cold‑chain transport. TAT: 3–4 weeks. All data processed in compliance with UAE PDPL.
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