Test Price
2,800 AED✅ Home Collection Available
ACADSB Gene 2-Methylbutyrylglycinuria Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Daily 8 AM – 11 PM).
- Clinical Guidance: Telephonic Post‑Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The ACADSB gene test sequences the entire coding region to identify pathogenic variants causing 2‑methylbutyrylglycinuria, a rare autosomal recessive disorder of branched‑chain amino acid metabolism. Our Next‑Generation Sequencing (NGS) assay provides comprehensive detection of missense, nonsense, splice‑site, and copy number variants with greater than 99.9% diagnostic sensitivity.
| Feature | Our Test (ACADSB NGS) | Closest Alternative (Targeted Variant Panel) |
|---|---|---|
| Methodology | Full gene Next‑Generation Sequencing + CNV analysis | Limited panel of known mutations |
| Diagnostic Sensitivity | >99.9% (misses few deep intronic variants) | ~80–85% (misses novel/rare variants) |
| Turnaround Time | 3–4 Weeks | 2–3 Weeks |
| Clinical Utility | Confirms diagnosis, carrier screening, family planning | Only rule‑in common mutations; often requires reflex to full sequencing |
| Price | 2800 AED | 1500 – 2000 AED |
Physician Insight & Safety Protocols
"The ACADSB NGS test is a powerful diagnostic tool for 2‑methylbutyrylglycinuria. However, results must always be correlated with biochemical markers and the full clinical phenotype. A detected variant does not guarantee disease expression, and a negative result does not exclude all metabolic disorders. Post‑test genetic counselling and comprehensive clinical evaluation are essential for accurate interpretation."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue or alter any prescribed medication, dietary supplement, or metabolic formula without direct consultation with your treating physician. Genetic test results alone do not constitute a treatment directive. Always seek medical advice before making changes to your therapy.
Patient Safety & Exclusion Criteria
- Unresolved acute illness or metabolic crisis at the time of sample collection.
- Inability to provide informed consent (including from a legal guardian for minors under 18 years).
- Pregnancy or active fertility planning without prior genetic counselling.
- Lack of a pre‑test genetic counselling session (mandatory for pedigree‑based risk assessment).
🚨 Emergency Red Flags:
Seek immediate medical attention if you experience recurrent vomiting, unexplained lethargy, seizures, hypotonia, or signs of metabolic acidosis (deep, rapid breathing) – these may indicate acute metabolic decompensation.
Patient FAQ & Clinical Guidance
1. What is the ACADSB gene test?
The ACADSB gene test detects pathogenic variants in ACADSB causing 2‑methylbutyrylglycinuria, a treatable metabolic condition. This NGS‑based assay screens the entire coding sequence and exon‑intron boundaries, identifying missense, nonsense, splice‑site variants, and copy number changes. Results assist in confirming a clinical diagnosis, carrier detection, and preconception planning.
2. Do I need a doctor’s referral for this test?
You can self‑order this test without a doctor's referral and receive a comprehensive, physician‑authored report. Our DHA‑licensed clinical team will review your health questionnaire and triage the request. The final report is validated by a board‑certified geneticist and includes actionable recommendations. While a referral is advisable for optimal clinical correlation, it is not mandatory.
3. How long do results take and how will I receive them?
Results are available in 3–4 weeks via a secure patient portal with integrated telephonic clinical interpretation support. You will be notified by SMS/WhatsApp when your report is ready. A 15‑minute telephonic interpretation session with a genetic counsellor is included to explain findings and next steps. Hard‑copy reports can be arranged upon request.
UAE Regulatory & Data Privacy Adherence
- Data protection aligned with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) – all results are encrypted and processed within the UAE.
- Compliance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for secure health information exchange.
- Clinical testing safety and patient consent adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Laboratory accredited ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) – ensuring internationally recognised quality management.
Clinical & Logistical Metadata
| Test Name | ACADSB Gene 2‑Methylbutyrylglycinuria Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or Saliva (Oragene) |
| Methodology Used | Full Gene Next‑Generation Sequencing + CNV Analysis |
| ICD‑10‑CM Code | E71.11 |
| LOINC Code | 55230-4 |
| DHA Facility License & Laboratory Address | DHA License 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
All reports reviewed by DHA-Certified physicians