Test Price
2,800 AED✅ Home Collection Available
DHTKD1 Gene Analysis (2-Aminoadipic 2-Oxoadipic Aciduria) – Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Precision Diagnostics & Patient Guarantee
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS 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: Complimentary Telephonic Post-Test Clinical Correlation Session with our genetic counseling team.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
This advanced NGS-based genetic test provides definitive molecular diagnosis of 2-aminoadipic 2-oxoadipic aciduria, a rare autosomal recessive disorder of lysine metabolism. With 99.9% diagnostic sensitivity and DHA-licensed processing, we ensure clinical accuracy and full regulatory compliance.
Test Overview & Methodology
The DHTKD1 Genetic Test screens for pathogenic variants in the DHTKD1 gene associated with 2-aminoadipic 2-oxoadipic aciduria — a rare autosomal recessive inborn error of lysine, hydroxylysine, and tryptophan metabolism. This test employs next-generation sequencing (NGS) for comprehensive coding-region analysis, delivering definitive molecular confirmation for metabolic specialists and families across the UAE.
| Feature | Our NGS Test (DHA-Licensed) | Closest Alternative (Biochemical Only) |
|---|---|---|
| Diagnostic Precision | Single-nucleotide variant & indel resolution via NGS | Plasma/urine organic acid profiling — non-specific |
| Methodology | Next Generation Sequencing (Full Gene Coverage) | GC-MS / Tandem Mass Spectrometry |
| Turnaround Time | 3–4 Weeks (Definitive Molecular Report) | 5–10 Days (Suggestive, Requires Genetic Confirmation) |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics, I emphasize that the DHTKD1 NGS test provides critical molecular clarity for diagnosing 2-aminoadipic 2-oxoadipic aciduria. However, results must be interpreted within the full clinical context—negative findings do not exclude all inborn errors of metabolism, and positive results should prompt cascade screening and metabolic specialist referral. Your physician remains essential in this diagnostic journey."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory: Mandatory Genetic Counseling
Pre-Test Counseling & Consent
In compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability and Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), all patients must complete a comprehensive genetic counseling session prior to sample collection. This session includes construction of a three-generation pedigree chart, discussion of inheritance patterns, and documented informed consent. For minors, consent from a legal guardian is mandatory.
Exclusion Criteria & Safety Warnings
Important Clinical Notices
- Medication Continuity: Do not discontinue any prescribed medication, supplement, or metabolic formula without explicit instruction from your treating physician.
- Acute Illness: Patients with acute metabolic decompensation, severe vomiting, or altered consciousness require emergency stabilization prior to elective genetic sampling.
- Sample Integrity: Hemolyzed, clotted, or improperly stored whole-blood specimens will be rejected. FTA card samples must be fully dried at ambient temperature before submission.
- Emergency Red Flags: If the patient experiences sudden developmental regression, unexplained seizures, acute hypotonia, persistent metabolic acidosis, or encephalopathic changes—seek immediate emergency care and inform the team of the suspected disorder.
Patient FAQ & Clinical Guidance
1. What does the DHTKD1 gene test diagnose, and how long do results take?
This NGS test definitively identifies pathogenic mutations in the DHTKD1 gene responsible for 2-aminoadipic 2-oxoadipic aciduria, a rare autosomal recessive metabolic disorder affecting lysine degradation. Results are typically delivered within 3 to 4 weeks from sample receipt. The report includes variant classification (ACMG guidelines), zygosity status, and clinical correlation recommendations. Expedited processing is available for acutely symptomatic patients upon geneticist request.
2. Can I use my health insurance to cover the 2800 AED cost of this genetic test?
Many UAE-based insurance plans cover medically indicated genetic testing when accompanied by a valid physician referral and pre-authorization from a DHA-licensed metabolic specialist or clinical geneticist. Our billing team verifies coverage before sample collection. Contact our WhatsApp support at +971 54 548 8731 with your policy number for a complimentary benefits check within 2 business hours.
3. Can this test be performed on infants, and what are the consent requirements?
Yes, the DHTKD1 test can be performed on infants using a venous blood sample or FTA card, provided documented informed consent is obtained from the parent or legal guardian. In full compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability and Federal Law No. 2 of 2019 (ICT in Health Fields), a genetic counseling session must be completed before collection, including pedigree analysis. Minimum sample volume for infants is 0.5 mL whole blood.
UAE Regulatory & Data Privacy Adherence
Full Compliance with UAE Law
This test and all associated data handling comply 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. Genetic data confidentiality, patient consent, and secondary use restrictions are strictly enforced. Clinical safety protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | DHTKD1 Gene Analysis (2-Aminoadipic 2-Oxoadipic Aciduria) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next Generation Sequencing (Full Gene Coverage) |
| ICD-10-CM Code | E72.52 |
| LOINC Code | 81261-8 |
| DHA Facility License & Address | DHA Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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