Test Price
2,800 AED✅ Home Collection Available
HMBS Gene (Porphyria Acute Intermittent) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين HMBS (البورفيريا الحادة المتقطعة) بتقنية التسلسل الجيني NGS في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
- ✓Accuracy Guarantee: 99.9% Diagnostic Sensitivity via NGS on Illumina NovaSeq 6000 – ISO 9001:2015 Certified Processing.
- ✓Premium Logistics: Hospital-Grade Home Collection by VIP Mobile Phlebotomy with ISO-Certified Cold-Chain Transport (8 AM – 11 PM).
- ✓Clinical Guidance: Telephonic Post-Test Clinical Interpretation included – our genetic counsellors explain results in context.
- ✓Insurance: Direct Billing Verification & Pre-Approval via WhatsApp at +971 54 548 8731.
الخلاصة التنفيذية: تقرير سريري دقيق بنسبة 99.9% لتحليل جين HMBS للبورفيريا الحادة المتقطعة، معتمد من هيئة الصحة بدبي وخدمة سحب منزلي بمعايير دولية.
Comprehensive HMBS Gene Analysis – Overview
This test sequences the entire coding region of the hydroxymethylbilane synthase (HMBS) gene using Next-Generation Sequencing (NGS) to identify pathogenic variants linked to Acute Intermittent Porphyria (AIP). يكشف التحليل الطفرات المسببة للبورفيريا الحادة المتقطعة بدقة عالية.
| Feature | Our Test (NGS Full Gene) | Closest Alternative (Targeted Mutation Panel) |
|---|---|---|
| Precision | ≥99.9% diagnostic sensitivity; covers all exons, splice sites, and deep intronic regions | Limited to preselected common mutations (~80% sensitivity in certain populations) |
| Methodology | NGS on Illumina NovaSeq 6000 with orthogonal confirmation by Sanger sequencing | Sanger sequencing of a few exons or allele-specific PCR |
| Turnaround Time | 3–4 Weeks | 2–3 Weeks |
| Price (AED) | 2800 | ~1800 |
Physician Insight & Safety Protocol
“A positive HMBS mutation confirms the diagnosis of Acute Intermittent Porphyria, but the clinical picture—abdominal pain, neuropsychiatric symptoms, and urine porphobilinogen levels—must always guide urgent management. I strongly advise that all mutation carriers undergo genetic counselling and avoid known precipitants such as certain drugs, alcohol, and fasting.”
— Dr. Prabhakar Reddy, DHA License 61713011
⚠ Medication Warning:
Do not discontinue any prescribed medication without direct consultation with your treating doctor. Abrupt changes can trigger acute porphyric crises.
Exclusion Criteria & Emergency Red Flags
- Known active acute porphyric attack at the time of sampling – stabilise the patient first.
- Pregnancy: genetic testing may proceed only after specialized pre-test counselling and informed consent.
- Minors without parental/legal guardian consent, as per UAE CDS Law 2026.
- Seek immediate emergency care if you develop severe abdominal pain, confusion, seizures, or unexplained muscle weakness; these may indicate an acute neurovisceral crisis.
Patient FAQ & Clinical Guidance
1. Why is full HMBS gene sequencing recommended instead of a targeted mutation panel?
Full NGS-based sequencing detects over 400 known pathogenic variants across all exons, including rare or novel mutations, providing a definitive diagnosis when standard panels miss private familial mutations.
يكتشف التسلسل الكامل أكثر من 400 طفرة ممرضة في جين HMBS، مما يضمن تشخيصًا دقيقًا حتى للطفرات النادرة.
2. How should I prepare for the blood draw and what genetic counselling is required?
A genetic counselling session is mandatory to draw a detailed family pedigree; provide a full clinical history and list of current medications. Fasting is not required, but avoid alcohol for 24 hours before sample collection.
يجب حضور جلسة استشارة وراثية لرسم شجرة العائلة وتقديم تاريخ مرضي كامل، مع تجنب الكحول لمدة 24 ساعة قبل سحب العينة.
3. What happens if a disease-causing variant is identified?
You will receive a post- telephonic consultation explaining the clinical significance, inheritance pattern (autosomal dominant), and personalised preventive measures to avoid triggers, including a medication safety list.
ستحصل على استشارة هاتفية بعد النتيجة لشرح أهمية الطفرة وخطة الوقاية من المحفزات الدوائية والغذائية.
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توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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