Test Price
2,800 AEDโ Home Collection Available
ETFB Gene Acyl-CoA Multiple Dehydrogenase Deficiency Genetic Test
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited Next Generation Sequencing (NGS) with Sanger confirmation.
- Premium Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test clinical guidance for result interpretation provided by a Consultant Medical Geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced NGS test analyzes the ETFB gene to diagnose Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), a treatable inborn error of metabolism. Pathogenic variants in the ETFB gene disrupt fatty acid oxidation, leading to severe metabolic crises if undetected. By targeting all coding exons and splice sites, our test achieves a 99.9% sensitivity rate, with pathogenic variants confirmed via Sanger sequencing for unequivocal results.
| Feature | Our Test (NGS Gene Panel) | Closest Alternative (Biochemical Assay) |
|---|---|---|
| Precision | 99.9% sensitivity, detects all exon variants | ~90% sensitivity, may miss mild cases |
| Methodology | Next Generation Sequencing (NGS) with Sanger confirmation | Urine organic acids & acylcarnitine profiling |
| Turnaround Time | 3โ4 Weeks | 7โ14 Days |
Physician Insight & Safety Protocols
โGenetic analysis of the ETFB gene is a powerful tool for confirming MADD, but it must be interpreted alongside the patientโs clinical presentation, family history, and metabolic lab results. Never alter or discontinue prescribed therapies based solely on genetic findings. Always consult a metabolic specialist for a personalized care plan.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue, adjust, or start any medication without explicit instruction from your treating physician. Genetic test results can inform but never replace professional clinical judgment.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Active bleeding disorders or inability to provide a blood sample without medical clearance.
- Exclusion: Pediatric patients under 18 require parental or guardian consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Red Flag: Sudden vomiting, lethargy, hypoglycemia, or metabolic crisis symptoms โ seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What is the ETFB gene test used for?
This test detects pathogenic mutations in the ETFB gene that cause Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), also known as glutaric acidemia type II.
Early diagnosis through this NGS panel allows for timely dietary management, carnitine supplementation, and avoidance of metabolic decompensation episodes.
2. How should I prepare for this test?
You will need a genetic counseling session and a family pedigree chart before sample collection.
Pre-test requirements include a detailed clinical history, informed consent, and a blood draw (or FTA card). Our genetic counselor will explain the benefits and limitations to ensure you are fully informed.
3. How accurate is this NGS test?
Our NGS-based test achieves 99.9% diagnostic sensitivity for ETFB gene variants, backed by ISO 9001:2015 accreditation.
The test detects more than 99% of known pathogenic mutations and uses Sanger confirmation to eliminate false positives, ensuring reliable results for clinical decision-making.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Security: All genetic data is processed in full 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 confidentiality and data integrity are maintained through encrypted storage, access controls, and stringent audit trails. Our facility adheres to ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) for quality management.
Clinical & Logistical Metadata
| Test Name | ETFB Gene Acyl-CoA Multiple Dehydrogenase Deficiency Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or FTA card; VIP Mobile Phlebotomy & temperature-controlled cold-chain home collection available daily 8 AMโ11 PM. |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | E71.313 (Multiple acyl-CoA dehydrogenase deficiency) |
| LOINC Code | 94299-1 (DNA sequencing gene panel) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
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