Test Price
2,800 AED✅ Home Collection Available
BCKDHB Gene Maple Syrup Urine Disease Type 1b Genetic Test - DNA Labs UAE | 2,800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited next-generation sequencing, certified under INT/EGQ/2509DA/3139.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all Emirates.
- Clinical Guidance: Complimentary post-test telephonic review with a multidisciplinary metabolic specialist team.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731 – most major UAE insurers accepted.
Test Overview & Methodology
The BCKDHB Gene Maple Syrup Urine Disease Type 1b Genetic Test is a whole-gene sequencing assay that identifies pathogenic variants in the BCKDHB gene, confirming the diagnosis of autosomal recessive Maple Syrup Urine Disease (MSUD) type 1b. This advanced analysis supports differential diagnosis in patients with metabolic acidosis, developmental delay, and characteristic maple syrup odor, while enabling cascade screening for at-risk family members.
| Feature | Our Test (NGS) | Traditional Sanger Sequencing |
|---|---|---|
| Method | Next‑Generation Sequencing (whole gene coverage) | Single‑gene capillary sequencing |
| Diagnostic Yield | >99% sensitivity for point mutations, small indels, and CNVs | ~95% (misses deep intronic/exonic deletions) |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Sample Types | Whole Blood, Extracted DNA, or FTA Card | Blood or Extracted DNA only |
| Accreditation | ISO 9001:2015, DHA‑compliant facility (License 1143) | Variable |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I recognize the profound implications of a genetic diagnosis for MSUD. This NGS‑based test provides definitive results, enabling early dietary intervention and informed family planning. I emphasize the need for pre‑ and post‑test genetic counselling to ensure patients and families fully understand the outcomes and options.”
Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory
Do not discontinue prescribed branched‑chain amino acid formula or dietary management without consulting your metabolic specialist. Abrupt changes may precipitate a metabolic crisis. Always confirm any medication adjustments with your treating physician.
Exclusion & Emergency Red Flags
- Exclusion Criteria: Active metabolic decompensation (vomiting, encephalopathy, ketoacidosis) – stabilise the patient before specimen collection; inability to provide informed consent (for minors, parental consent must be obtained); sample with inadequate DNA quantity (<50 ng/µL) or heavy haemolysis.
- Seek immediate emergency care if after sample collection:
- Acute lethargy, vomiting, or refusal to feed in infants
- Development of seizures or abnormal movements
- Altered consciousness or coma
- Hyperammonaemic signs (irritability, respiratory alkalosis)
Patient FAQ & Clinical Guidance
1. What is the purpose of the BCKDHB gene test for Maple Syrup Urine Disease?
This test sequences the BCKDHB gene to identify pathogenic variants responsible for MSUD type 1b, enabling a definitive diagnosis and carrier detection. It targets the most common genetic cause of the classic severe form and guides lifelong dietary management. Cascade testing of first‑degree relatives is recommended when a familial mutation is confirmed.
2. How is the sample collected and how long does it take?
A certified phlebotomist performs a home visit (8 AM–11 PM) to draw one blood sample, or you can submit extracted DNA. An FTA card option is available for remote collection when venipuncture is impractical. Total turnaround time is 3 to 4 weeks from sample receipt; results are delivered via secure email with a pre‑scheduled telephonic review.
3. Is this covered by my UAE health insurance?
Most UAE insurers cover medically indicated NGS tests when accompanied by a DHA‑licensed physician’s referral and clinical justification. We verify your coverage directly through WhatsApp at +971 54 548 8731 before scheduling the collection. Payment plans are available for self‑pay patients, and no hidden laboratory fees apply.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License No. 1143. All genetic data is handled in strict 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 is paramount; test results are securely transmitted and stored, and access is limited to authorised personnel only.
Clinical & Logistical Metadata
| Test Name | BCKDHB Gene Maple Syrup Urine Disease Type 1b Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card |
| Methodology Used | Next‑Generation Sequencing (Whole Gene Coverage) |
| ICD-10-CM Code | E71.0 |
| LOINC Code | 21638-3 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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