Test Price
2,800 AED✅ Home Collection Available
DDC Gene (Aromatic L-Amino Acid Decarboxylase Deficiency, AADC) Next‑Generation Sequencing (NGS) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Clinical Precision & Premium Logistics
- 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing – full coding and deletion/duplication analysis.
- VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (8 AM – 11 PM) – Available daily.
- Post‑Test Tele‑Clinical Guidance – expert interpretation of your NGS report in plain clinical language.
- Direct Insurance Verification via WhatsApp at +971 54 548 8731 – we confirm coverage before your draw.
Compliance & Quality
- Compliant with Federal Decree‑Law No. 45 of 2021 (PDPL) and Federal Law No. 2 of 2019 on Health ICT.
- Patient consent and clinical safety align with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- ISO 9001:2015 Certified – Cert: INT/EGQ/2509DA/3139.
Test Overview & Methodology
This test covers all coding exons, flanking splice junctions, and known deep intronic regions of the DDC gene using high‑read‑depth Next‑Generation Sequencing (NGS). It detects pathogenic variants responsible for Aromatic L‑Amino Acid Decarboxylase deficiency – a severe neurometabolic disorder affecting neurotransmitter synthesis.
| Feature | Our Test (NGS – DDC Full Gene) | Closest Alternative (Sanger Sequencing of Single Exon) |
|---|---|---|
| Analytical Sensitivity | >99.9% for SNVs, indels, and CNVs | ~95% (limited to targeted area) |
| Methodology | Illumina® NGS with MLPA backup | Sanger dideoxy sequencing |
| Turnaround Time | 3 – 4 Weeks (from sample receipt) | 5 – 7 Weeks (if multiple fragments needed) |
| Variant Interpretation | ACMG/AMP guidelines with phenotype correlation | Standard mutation report without full gene context |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I emphasize that NGS results must be interpreted within the full clinical picture, including neurotransmitter metabolite analysis and a detailed family pedigree. A genetic diagnosis is a powerful tool, but it requires compassionate counselling and integration with your child’s overall care plan. No test replaces the value of a thorough physical examination and ongoing specialist follow‑up.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Safety Advisory
Do not discontinue, adjust, or taper any prescribed medications (including levodopa, dopamine agonists, or anti‑epileptics) without direct consultation with your managing neurologist or geneticist. Abrupt changes can precipitate life‑threatening autonomic crises.
Test Exclusion Criteria & Emergency Red Flags
- Do not proceed with home collection if the patient is currently experiencing an acute dystonic crisis, severe hypotension, or uncontrolled seizure.
- Test may be postponed if pre‑test genetic counselling (pedigree charting) has not been completed; a mandatory appointment is required.
- Seek emergency care immediately if after sample collection the patient develops: sudden loss of consciousness, breathing difficulty, extreme muscle rigidity, or oculogyric crisis.
Patient FAQ & Clinical Guidance
1. What conditions does the DDC gene NGS test detect?
This test detects germline variants in the DDC gene that cause Aromatic L‑Amino Acid Decarboxylase deficiency, a severe neurometabolic disorder. It covers single nucleotide variants, small insertions/deletions, and copy number changes. The report classifies variants according to ACMG/AMP criteria, helping confirm clinical diagnosis, carrier status, or familial risk.
2. How should I prepare for the blood draw or sample collection?
No fasting is required; you must complete a pre‑genetic counselling session to document your family pedigree. Continue all regular medications unless your specialist advises otherwise. Please inform the phlebotomist of any bleeding disorders or recent blood transfusions. The DNA sample can be collected via a simple venous blood draw, a single drop of blood on an FTA card, or extracted DNA.
3. What happens if the result is positive or negative?
A positive result confirms the genetic diagnosis of AADC deficiency, guiding precise medical, dietary, and neurotransmitter‑based therapies. A negative result reduces the likelihood of classic AADC deficiency but may warrant further enzymatic or metabolic investigations. In either case, the tele‑consulting physician will explain the implications for family members and discuss reproductive options.
UAE Regulatory & Data Privacy Adherence
Your genetic data is protected under the strictest UAE privacy frameworks:
- Federal Decree‑Law No. 45 of 2021 (PDPL) – governs the collection, processing, and storage of personal data.
- Federal Law No. 2 of 2019 – mandates security and confidentiality for health information used in ICT systems.
- Federal Decree‑Law No. 4 of 2016 – establishes medical liability and informed consent standards for clinical testing.
All genetic reports are encrypted, access‑controlled, and retained per DHA retention policies. You have the right to access your data, request correction, and withdraw consent at any time.
Clinical & Logistical Metadata
| Test Name | DDC Gene (AADC Deficiency) Next‑Generation Sequencing (NGS) Full Gene Analysis |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 Weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood (EDTA), saliva, or FTA card (extracted DNA accepted) |
| Methodology Used | Next‑Generation Sequencing (NGS) with MLPA backup for deletion/duplication detection |
| ICD-10-CM Code | E70.81 |
| LOINC Code | 94477-3 |
| DHA Facility License & Laboratory Address | DNA Labs UAE – DHA License No. 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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