Test Price
2,800 AED✅ Home Collection Available
ASNS Gene Asparagine Synthetase Deficiency Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين ASNS لنقص إنزيم الأسباراجين سينثيتاز في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary – DHA‑Compliant Genomic Diagnostics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015‑accredited NGS processing.
- Premium Logistics: Paid Hospital‑Grade Home Collection with ISO‑Certified Cold Chain & VIP Mobile Phlebotomy (8 AM – 11 PM).
- Clinical Guidance: Telephonic Post‑Test Clinical Support for result interpretation and genetic counselling.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
ملخص تنفيذي
هذا التحليل الجيني المعتمد من هيئة الصحة بدبي يضمن دقة تصل إلى 99.9٪ لتشخيص نقص إنزيم الأسباراجين سينثيتاز، مع خدمات سحب دم منزلي عالية الجودة واستشارة وراثية ما بعد الفحص.
Overview
The ASNS Gene Asparagine Synthetase Deficiency Genetic Test is a definitive molecular assay that thoroughly analyses the entire coding region of the ASNS gene using Next‑Generation Sequencing. This test identifies pathogenic variants responsible for asparagine synthetase deficiency, a severe autosomal recessive neuro‑metabolic disorder characterised by congenital microcephaly, intractable seizures, and global developmental delay. (اختبار جيني يفحص جين ASNS لكشف الطفرات المسببة لنقص إنزيم الأسباراجين سينثيتاز، وهو اضطراب استقلابي عصبي وراثي نادر.)
| Feature | Our Test (ASNS NGS) | Closest Alternative (Single‑gene Sanger) |
|---|---|---|
| Precision | Full‑gene coverage with 1000x depth; detects SNVs, indels, and CNVs | Limited to targeted exons; may miss deep intronic variants |
| Methodology | ISO‑validated NGS (Next Generation Sequencing) with bioinformatic confirmation | Capillary Sanger sequencing |
| Turnaround | 3–4 Weeks (expedited possible) | 6–8 Weeks |
Physician Insight & Safety Protocol
Dr. Prabhakar Reddy, DHA Licensed (61713011): “This test provides critical molecular confirmation when clinical presentation suggests asparagine synthetase deficiency. However, genetic results must always be correlated with biochemical and neurological findings—a negative report does not exclude the disorder if clinical suspicion remains high. I strongly advise that families receive pre‑ and post‑test genetic counselling to fully understand the implications of the findings.”
Medication Warning
Do not discontinue prescribed medication without consulting your doctor. This genetic test does not replace clinical management or ongoing therapeutic interventions.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients unable to provide informed consent (or guardian consent for minors) in compliance with UAE CDS Law 2026.
- Exclusion: Sample contamination or insufficient DNA quantity (<1 µg) will require recollection.
- Emergency Red Flag: If the patient exhibits acute metabolic decompensation (lethargy, vomiting, hypoglycaemia), seek immediate emergency care—do not wait for genetic results.
Patient FAQ & Clinical Guidance
1. What is the purpose of the ASNS gene test, and when should it be ordered?
The test confirms asparagine synthetase deficiency in patients with microcephaly, refractory epilepsy, and developmental delay by identifying biallelic ASNS mutations. It should be ordered when clinical and neuroimaging findings point to this rare neuro‑metabolic disorder.
السؤال: ما الهدف من فحص جين ASNS، ومتى يُطلب؟
يُؤكِّد الفحص وجود نقص إنزيم الأسباراجين سينثيتاز من خلال كشف الطفرات الجينية في جين ASNS، ويُطلب عند ظهور أعراض سريرية مثل صغر الرأس والصرع المقاوم وتأخر النمو.
2. How is the sample collected, and what preparation is needed?
A hospital‑grade home collection of whole blood or a dried blood spot (FTA card) is performed by a certified phlebotomist between 8 AM and 11 PM, with no fasting required. A mandatory pre‑ genetic counselling session is conducted to document family history and draw a pedigree chart.
السؤال: كيف تُجمع العينة وما التحضيرات اللازمة؟
يتم سحب الدم أو أخذ بقعة دم جافة بواسطة مختص معتمد في المنزل، ولا يحتاج المريض للصيام، مع جلسة استشارة وراثية إلزامية لتوثيق التاريخ العائلي.
3. What do the results mean and how will they be used by my doctor?
A positive result confirms the diagnosis and enables targeted management, family screening, and reproductive planning. A negative or uncertain result requires clinical correlation, and your doctor may recommend further metabolic testing or whole exome sequencing if suspicion persists.
السؤال: ماذا تعني النتائج وكيف يستخدمها الطبيب؟
النتيجة الإيجابية تؤكد التشخيص وتفتح المجال للتدبير العلاجي والفحص العائلي، أما النتيجة السلبية فلا تنفي المرض بالضرورة وقد ينصح الطبيب بفحوصات استقلابية إضافية.
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