Test Price
2,800 AED✅ Home Collection Available
HMBS Gene (Porphyria Acute Intermittent) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- ✓Accuracy Guarantee: 99.9% diagnostic sensitivity via NGS on Illumina NovaSeq 6000 – ISO 9001:2015 certified processing with orthogonal Sanger confirmation.
- ✓Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- ✓Clinical Guidance: Post-test telephonic interpretation by a Consultant Medical Geneticist to contextualise results and guide preventive management.
- ✓Insurance: Direct billing verification and pre-approval via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This test sequences the entire coding region of the hydroxymethylbilane synthase (HMBS) gene using next-generation sequencing (NGS) to identify pathogenic variants associated with acute intermittent porphyria (AIP). Full-gene analysis detects over 400 known mutations across all exons, splice sites, and deep intronic regions, providing a definitive molecular diagnosis when targeted panels miss private familial variants.
| 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 Protocols
“A pathogenic HMBS variant confirms the diagnosis of acute intermittent porphyria, yet the clinical presentation—abdominal pain, neuropsychiatric features, and urine porphobilinogen levels—must always direct urgent management. I recommend that all confirmed carriers undergo genetic counselling and strictly avoid known precipitants including certain drugs, alcohol, and prolonged fasting.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue any prescribed medication without direct consultation with your treating physician. Abrupt withdrawal can precipitate an acute porphyric crisis and requires immediate clinical assessment.
Exclusion Criteria & Emergency Red Flags
- Known active acute porphyric attack at the time of sampling – stabilise the patient before proceeding.
- Pregnancy: genetic testing may proceed only after specialised pre-test counselling and informed consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Minors without parental or legal guardian consent.
- 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 fail to capture private familial mutations. This approach maximises sensitivity for all ethnic backgrounds.
2. How should I prepare for the blood draw and what genetic counselling is required?
A genetic counselling session is mandatory to construct a detailed family pedigree and document your full clinical history and current medications. Fasting is not required, but avoid alcohol for 24 hours before sample collection. The counsellor will explain the inheritance pattern and potential implications for family members.
3. What happens if a disease-causing variant is identified?
You will receive a post-test telephonic consultation detailing the clinical significance, autosomal dominant inheritance pattern, and personalised preventive measures to avoid known triggers. A medication safety list and lifestyle recommendations will be provided to reduce the risk of acute attacks.
4. Can family members of a confirmed carrier be tested?
Yes, cascade testing for first-degree relatives is strongly recommended. Once a pathogenic HMBS variant is identified in the proband, targeted testing for that specific mutation can be offered to at-risk family members to enable early diagnosis and preventive management.
UAE Regulatory & Data Privacy Adherence
Data Protection & Clinical Governance
All genetic data is processed in 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. Patient consent and clinical safety protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genetic information remains strictly confidential and is used solely for diagnostic and counselling purposes under the oversight of the Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | HMBS Gene (Porphyria Acute Intermittent) Genetic Test |
| Price (AED) | 2800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available Daily 8 AM – 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq 6000 with Orthogonal Sanger Confirmation |
| ICD-10-CM Code | E80.21 |
| LOINC Code | 21626-1 |
| 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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