Test Price
2,800 AED✅ Home Collection Available
BCAT1 Gene Branched-Chain Aminotransferase 1 Deficiency Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Accuracy Guarantee
99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
Clinical Guidance
Telephonic Post-Test Clinical Guidance in result interpretation by experienced specialists.
Insurance
Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The BCAT1 Genetic Test performs comprehensive sequencing of the BCAT1 gene to identify pathogenic variants responsible for Branched-Chain Aminotransferase 1 Deficiency, an inherited metabolic disorder affecting branched-chain amino acid catabolism. This high-coverage Next-Generation Sequencing assay delivers definitive molecular confirmation for hypervalinemia, developmental delay, and neurological deterioration, enabling targeted dietary and medical management under UAE specialist care.
| Parameter | Our NGS Test | Sanger Sequencing Alternative |
|---|---|---|
| Methodology | Next-Generation Sequencing (Illumina NovaSeq X Plus) | Capillary Sanger Sequencing |
| Coverage | Full coding regions + splice sites (>99% @≥20x) | Single exon-level, limited to known hotspots |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
| Diagnostic Sensitivity | 99.9% | ~95% (for point mutations only) |
| Cost | 2800 AED | Often higher (~3500 AED) |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics specialist, I emphasize that genetic testing for inherited metabolic conditions requires careful interpretation alongside plasma amino acid profiles and clinical phenotype. The BCAT1 deficiency diagnosis must be contextualized within the full clinical picture. Pre- and post-test genetic counselling is strongly recommended to understand implications for health and family planning. Our laboratory follows rigorous quality standards under DHA oversight."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. The BCAT1 genetic test is a diagnostic tool and does not replace ongoing clinical management by your treating physician.
Exclusion Criteria & Emergency Red Flags
- Acute febrile illness or unstable clinical condition; postpone testing until recovery.
- Minors (under 18 years) require explicit parental or legal guardian consent in accordance with UAE regulations.
- Inability to provide informed consent for genetic analysis.
- Emergency Red Flags: Sudden onset of seizures, intractable vomiting, lethargy, ataxia, or suspected metabolic crisis – seek immediate emergency care; do not wait for test results.
Patient FAQ & Clinical Guidance
1. What is the BCAT1 Genetic Test and what does it diagnose?
This NGS test sequences the entire BCAT1 gene to detect mutations causing Branched-Chain Aminotransferase 1 Deficiency, an inherited metabolic disorder affecting branched-chain amino acid breakdown, leading to hypervalinemia, developmental delay, and neurological symptoms.
2. How is the test performed and what is the turnaround time?
A simple blood draw, buccal swab, or a drop of blood on an FTA card is collected via our VIP Mobile Phlebotomy service. Extracted DNA is sequenced on the Illumina NovaSeq X Plus platform with a turnaround time of 3 to 4 weeks.
3. How can I book the test and what are the insurance coverage options?
Schedule your hospital-grade home collection by calling or messaging WhatsApp +971 54 548 8731. Our team provides direct insurance billing verification for most UAE medical insurance plans.
4. Who should consider this genetic test?
Individuals with clinical suspicion of branched-chain amino acid metabolism disorders, unexplained developmental delay, neurological deterioration, or a family history of BCAT1 deficiency may benefit from this test. Genetic counselling is recommended before testing.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection
This genetic testing service is fully compliant with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) - ensuring the confidentiality and security of your genetic information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields - governing digital health data management.
- Federal Decree-Law No. 4 of 2016 on Medical Liability - governing clinical testing safety and patient consent.
Testing is performed under DHA Facility License No. 1143 at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | BCAT1 Gene Branched-Chain Aminotransferase 1 Deficiency Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood, Buccal Swab, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq X Plus Platform |
| ICD-10-CM Code | E71.1 (Disorders of branched-chain amino-acid metabolism) |
| LOINC Code | 87712-1 (BCAT1 gene sequencing) |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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ISO Accredited
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All reports reviewed by DHA-Certified physicians