Test Price
2,800 AED✅ Home Collection Available
BCKDHA Gene Maple Syrup Urine Disease Type 1a Genetic Test in UAE
Executive Summary & Core Metrics
This comprehensive NGS-based genetic test screens the BCKDHA gene for pathogenic variants causing Maple Syrup Urine Disease Type 1a, a treatable inborn error of metabolism. With 99.9% diagnostic sensitivity and ISO 9001:2015 certified processing, the test enables early confirmatory diagnosis, carrier detection, and family cascade screening. Every test includes a mandatory pre-test genetic counselling session, VIP mobile phlebotomy home collection across all seven emirates, and telephonic post-test clinical guidance for result interpretation.
- Diagnostic Accuracy: 99.9% sensitivity via NGS + MLPA protocol
- Price: 2,800 AED (inclusive of VAT)
- Turnaround Time: 3–4 Weeks with full variant interpretation
- Home Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain, daily 8 AM – 11 PM
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
The test employs Next-Generation Sequencing (NGS) to comprehensively analyse the BCKDHA gene for single nucleotide variants, small insertions and deletions. Where sequencing suggests copy-number changes, Multiplex Ligation-Dependent Probe Amplification (MLPA) is deployed per current clinical guidelines. The combined approach delivers 99.9% analytical sensitivity for both common and rare pathogenic variants.
| Feature | Our Test (NGS Full Gene) | Closest Alternative (Biochemical Assay) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity; identifies exact mutation | Limited specificity; relies on metabolite levels |
| Methodology | Next‑Generation Sequencing + MLPA | Plasma amino acid analysis (LC‑MS/MS) |
| Turnaround Time | 3–4 weeks with genetic counselling | 1–2 weeks but often requires confirmatory genetics |
MLPA used when sequencing suggests copy‑number changes, per current ACMG guidelines.
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I emphasise that a genetic test result is one piece of a broader diagnostic picture. Your BCKDHA report must be correlated with plasma amino acid profiles, clinical presentation, and family pedigree to guide precise dietary management and long-term metabolic control. Pre‑test genetic counselling is not just a formality — it transforms uncertainty into actionable insight.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Pre-Test Safety Advisory
Never discontinue prescribed medication or initiate a leucine-restricted diet without direct supervision from your managing physician. Sudden dietary changes can precipitate metabolic crisis in individuals with Maple Syrup Urine Disease. A mandatory genetic counselling session (included in the test) will document your family pedigree and ensure informed consent prior to sample collection.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Active metabolic decompensation, acute infection with fever, or inability to provide informed consent. Genetic testing of minors requires parental consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ER Red Flags: If the individual (especially a newborn) develops poor feeding, vomiting, lethargy, abnormal movements, or a distinct maple‑syrup odour, proceed to the nearest emergency room immediately.
- Sample Collection Note: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection is available daily from 8 AM to 11 PM for peripheral whole blood or FTA card specimens.
Patient FAQ & Clinical Guidance
1. What is the BCKDHA gene test and why is it performed?
This test uses NGS to sequence the BCKDHA gene to confirm a diagnosis of Maple Syrup Urine Disease Type 1a and identify asymptomatic carriers. It detects single nucleotide variants, small insertions and deletions, and copy‑number changes with high clinical accuracy. Early diagnosis enables life‑saving dietary intervention and informed family planning.
2. How accurate is the NGS test and when are results available?
The combined NGS-plus-MLPA protocol delivers 99.9% analytical sensitivity for pathogenic variants in the BCKDHA gene. Results are reported within 3–4 weeks and include full variant interpretation, classification per ACMG criteria, and a comprehensive clinical report aligned with DHA standards.
3. Do I need a doctor’s referral and is home collection available?
Yes, a physician’s referral is mandatory. Our DHA‑licensed phlebotomy team provides VIP mobile home collection across all seven emirates, operating daily from 8 AM to 11 PM under ISO 9001:2015 certified cold‑chain logistics (Cert: INT/EGQ/2509DA/3139).
4. What does a positive test result mean for my family?
A pathogenic variant in BCKDHA confirms the diagnosis and has autosomal recessive inheritance implications. Carrier testing for parents and siblings is recommended. Our genetic counselling team will guide you through recurrence risk assessment and reproductive options.
5. How is my genetic data safeguarded under UAE law?
All genetic data is processed and stored 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. Your data is encrypted, access‑controlled, and never shared without explicit consent.
UAE Regulatory & Data Privacy Adherence
- DHA Facility License Number: 1143
- Laboratory Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
- Data Protection: Compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL)
- Health Information Governance: Adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields
- Medical Liability & Consent: Governed by Federal Decree-Law No. 4 of 2016 on Medical Liability
- Quality Certification: ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139)
Clinical & Logistical Metadata
| Test Name | BCKDHA Gene Maple Syrup Urine Disease Type 1a Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or FTA Card |
| Methodology Used | Next‑Generation Sequencing (NGS) + MLPA |
| ICD-10-CM Code | E71.0 |
| LOINC Code | 21629-5 |
| DHA Facility License & Laboratory Address | 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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