Test Price
2,800 AED✅ Home Collection Available
ALDH6A1 Gene Methylmalonate Semialdehyde Dehydrogenase 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 included.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) panel analyzes the ALDH6A1 gene, implicated in methylmalonate semialdehyde dehydrogenase deficiency—a rare inborn error of valine and thymine metabolism. The test identifies pathogenic variants that cause enzyme deficiency, enabling early diagnosis and targeted management planning through comprehensive genomic analysis.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Precision | NGS with full ALDH6A1 coverage (exons ±10 bp) | Single-gene Sanger sequencing (limited scope) |
| Methodology | LC-MS/MS validated NGS, all variant types | Basic PCR + electrophoresis |
| Turnaround | 3–4 weeks with interim reports | 6–8 weeks |
Physician Insight & Safety Protocols
As a consultant medical geneticist, I recognize that pursuing a genetic diagnosis can be an emotionally demanding journey. Every variant detected is carefully evaluated against the latest ACMG guidelines and interpreted within the full context of your clinical presentation and family history. My commitment is to transform genomic data into a personalized care roadmap that empowers you and your healthcare team.
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory & Best Practices
Do not discontinue prescribed medication without consulting your doctor. Genetic test results are not a substitute for ongoing clinical management. Always correlate findings with a comprehensive metabolic workup and specialist consultation.
Safety Exclusion Criteria & Emergency Red Flags
- Do not proceed with sample collection if you have an active febrile illness or acute infection.
- This test is not intended for individuals under 18 years without a court‑appointed guardian’s consent.
- If you experience metabolic decompensation (vomiting, lethargy, seizures) while awaiting results, seek immediate emergency care.
- All genetic data is stored encrypted and destroyed upon request 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 FAQ & Clinical Guidance
1. Why is ALDH6A1 NGS testing necessary if I show no symptoms?
Even asymptomatic carriers may have children with methylmalonate semialdehyde dehydrogenase deficiency, making genetic counselling crucial. Family screening identifies heterozygotes and guides reproductive planning; the test also clarifies ambiguous biochemical results.
2. How should I prepare for the blood draw at home?
No fasting is required, but you must provide a detailed clinical history and a three‑generation pedigree chart drawn by our genetic counsellor. The phlebotomist will collect 3–5 ml of whole blood in an EDTA tube or one drop on an FTA card.
3. What happens after the test; can I talk to a doctor about my results?
You will receive a telephonic post‑test clinical guidance session with a DHA‑licensed genetic specialist to explain each variant. A comprehensive PDF report is also provided, and we assist in integrating findings into your long‑term care plan.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
This genetic testing service operates under DHA Facility License Number 1143 and adheres to the highest standards of data protection and clinical safety mandated by UAE federal law.
- Data Privacy: All genomic and personal data is processed in strict accordance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). You retain full rights to access, rectify, and request deletion of your data at any time.
- Health Information Security: Electronic health records and genetic test results are safeguarded under Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring encrypted storage and secure transmission.
- Medical Liability & Consent: Clinical procedures and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability, guaranteeing that all testing is performed with informed consent and under professional accountability.
Clinical & Logistical Metadata
| Test Name | ALDH6A1 Gene Methylmalonate Semialdehyde Dehydrogenase Deficiency Genetic Test |
| Price (AED) | 2800 |
| Turnaround Time | 3–4 weeks with interim reports |
| Sample Type / Matrix | Whole Blood (EDTA tube or FTA card) |
| Methodology Used | LC-MS/MS validated Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | E70.8 |
| LOINC Code | 94046-3 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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