Test Price
2,800 AEDโ Home Collection Available
FBP1 Gene Fructose-1,6-Bisphosphatase Deficiency Genetic Test in UAE | 2800 AED | DHA-Approved
Executive Summary & Core Metrics
Executive Summary
Our ISO 9001:2015 accredited laboratory ensures 99.9% diagnostic accuracy via Next-Generation Sequencing (NGS) technology for analyzing FBP1 gene mutations responsible for fructose-1,6-bisphosphatase deficiency. We strictly adhere to 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 to safeguard your privacy. Premium VIP mobile phlebotomy home collection is available daily from 8 AM to 11 PM, followed by a complimentary post-result teleconsultation.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited NGS Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AMโ11 PM Daily).
- Clinical Guidance: Telephonic Post-Test Interpretation by a DHA-Licensed Consultant Medical Genetics Specialist.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The FBP1 gene test screens for fructose-1,6-bisphosphatase deficiency, a rare autosomal recessive metabolic disorder that impairs gluconeogenesis, causing life-threatening hypoglycemia and lactic acidosis. The analysis detects disease-causing mutations via NGS technology, guiding early diagnosis and preventive dietary management. Our methodology covers the full coding region with 99.9% analytical sensitivity and specificity, identifying single nucleotide variants and small deletions or duplications.
| Feature | Our Test (DHA-Approved) | Closest Alternative |
|---|---|---|
| Precision | NGS โ covers full coding region, 99.9% analytical sensitivity | Sanger (single-exon) โ limited variant detection |
| Turnaround Time | 3โ4 weeks (rigorous bioinformatics pipeline) | 6โ8 weeks for fragmented gene panels |
| Clinical Support | Free post-test teleconsultation and genetic counselling | Typically no integrated counselling |
Physician Insight & Safety Protocols
โAs a Consultant Medical Genetics with extensive experience, I emphasize that a genetic result is not a standalone diagnosis. It must be correlated with biochemical findings and clinical presentation. The FBP1 test provides critical information, particularly for newborns and young children presenting with unexplained hypoglycemia, but always requires expert interpretation to guide safe dietary management and treatment decisions.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
โ Medication & Safety Advisory
Do not discontinue any prescribed medication or modify diet without prior consultation with your treating physician. A positive result indicates genetic susceptibility; it does not replace acute clinical management. Always seek immediate medical attention for metabolic emergencies.
Exclusion Criteria & Emergency Red Flags
- Not intended for emergency diagnosis of acute metabolic decompensation.
- Not validated on samples from patients who received a bone marrow transplant in the last 6 months.
- Seek immediate emergency care if the individual (especially a child) exhibits lethargy, seizures, severe vomiting, or rapid breathing โ these may indicate a metabolic crisis requiring urgent intervention.
Patient FAQ & Clinical Guidance
1. What exactly does the FBP1 NGS test detect, and how accurate is it?
The test detects single nucleotide variants and small deletions or duplications across the entire FBP1 gene coding region with 99.9% analytical sensitivity and specificity. It accurately identifies genetic mutations responsible for fructose-1,6-bisphosphatase deficiency using advanced sequencing technology.
2. How is the sample collected, and is home collection available across the UAE?
A quick blood draw is performed by a DHA-licensed phlebotomist who visits your residence between 8 AM and 11 PM. The specimen is transported via temperature-controlled cold-chain logistics to our accredited laboratory. Alternatively, a dried blood spot on an FTA card may be collected for certain cases.
3. What happens after I receive my result?
You will receive a comprehensive report interpreted by a Consultant Medical Genetics specialist, followed by a complimentary telephonic consultation to explain clinical implications and next dietary steps. This ensures you fully understand the results and their impact on management.
4. Is pre-test genetic counselling mandatory?
Yes, a genetic counselling session to document a detailed pedigree of family members affected by fructose-1,6-bisphosphatase deficiency and to record the patientโs full clinical history is mandatory. This ensures accurate variant interpretation and compliance with UAE regulatory standards under Federal Decree-Law No. 4 of 2016 on Medical Liability.
UAE Regulatory & Data Privacy Adherence
This genetic test is performed in full compliance with the UAE legal framework governing medical data and genetic testing. Your personal and genetic information is protected under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). All health data handling conforms to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent procedures adhere strictly to Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory maintains ISO 9001:2015 accreditation and operates under DHA Facility License Number 1143.
Clinical & Logistical Metadata
| Test Name | FBP1 Gene Fructose-1,6-Bisphosphatase Deficiency Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 weeks (includes bioinformatics analysis and clinical interpretation) |
| Sample Type / Matrix | Peripheral Whole Blood or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full Gene Coding Region Analysis |
| ICD-10-CM Code | E74.04 (Fructose-1,6-bisphosphatase deficiency) |
| LOINC Code | 94124-8 (FBP1 gene mutation analysis in Blood or Tissue by NGS) |
| DHA Facility License & Laboratory Address | License 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians