Test Price
2,800 AED✅ Home Collection Available
NADK2 Gene 2,4-Dienoyl-CoA Reductase Deficiency Genetic Test in UAE
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity for point mutations and small indels via ISO 9001:2015 certified next-generation sequencing (NGS).
- Sample Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Turnaround Time: 3–4 weeks from sample receipt to final clinical report.
- Clinical Support: Post-test telephonic guidance by a Consultant Medical Genetics specialist.
- Insurance Verification: Direct billing confirmation via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The NADK2 gene test sequences the entire coding region of the NADK2 gene to identify pathogenic variants linked to 2,4-dienoyl-CoA reductase deficiency, a rare autosomal recessive disorder of mitochondrial fatty acid oxidation. This test aids in confirming diagnosis, carrier screening, and guiding dietary management to prevent metabolic crises.
| Feature | DNA Labs UAE – NGS Full Gene Sequencing | Enzyme Assay / Limited Mutation Panel |
|---|---|---|
| Methodology | Next-Generation Sequencing (entire coding region) | Biochemical enzyme assay / targeted known mutations only |
| Sensitivity | >99.9% for point mutations and small indels | Variable; misses novel or mosaic variants |
| Turnaround Time | 3–4 Weeks | 3–6 weeks (enzyme) / 2 weeks (limited panel) |
| Clinical Utility | Gold standard for definitive diagnosis and carrier screening | Limited scope; often requires follow-up genetic testing |
Physician Insight & Safety Protocols
“A molecular diagnosis of 2,4-dienoyl-CoA reductase deficiency empowers families with accurate recurrence risk information and targeted management strategies. I encourage patients to share results with a metabolic specialist to tailor dietary interventions and surveillance plans. Genetic counseling before and after testing remains essential for comprehensive care.”
– Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
⚠️ Safety Advisory – Medication & Clinical Precautions
Do not alter or discontinue any prescribed medications, specialized metabolic diets, or nutritional supplements without consulting your supervising physician. This test is a diagnostic tool and must be interpreted within the full clinical context, including biochemical markers, family history, and physical exam findings.
Exclusion Criteria – When to Defer Testing
- Acute severe illness or fever above 38.5°C (may compromise DNA integrity)
- Blood transfusion within the past 14 days
- Inability to provide informed consent or absence of a legally authorized guardian
🚨 Emergency Red Flags: Sudden onset of lethargy, persistent vomiting, hypoglycemia, or seizure-like activity may indicate acute metabolic decompensation. Seek immediate emergency medical care. This genetic test is intended for diagnostic clarification, not for acute crisis management.
Patient FAQ & Clinical Guidance
1. What sample type is required for the NADK2 gene test?
A standard venipuncture collection of 3 mL whole blood in an EDTA tube is sufficient. Extracted DNA samples or dried blood spots on FTA cards are also accepted. No fasting or special preparation is needed. Our mobile phlebotomy service can collect the sample at your home between 8 AM and 11 PM daily.
2. How long does it take to receive the NADK2 test results?
The typical turnaround time is 3 to 4 weeks from the date of sample receipt. This duration accounts for comprehensive manual variant interpretation, orthogonal confirmation, and clinical correlation to ensure the highest diagnostic accuracy.
3. Is genetic counseling required before undergoing this test?
Yes, a pre-test genetic counseling session is strongly recommended. It allows our genetics team to construct a detailed family pedigree, discuss potential outcomes, carrier implications, and the limitations of testing. This aligns with best clinical practice and DHA guidelines for genetic testing.
4. Can this test detect all known variants in the NADK2 gene?
Our NGS assay covers the entire coding region and conserved splice sites of the NADK2 gene. It detects point mutations, small insertions and deletions, and copy number variants. However, deep intronic variants or large structural rearrangements may require supplementary techniques.
UAE Regulatory & Data Privacy Adherence
Data Protection & Legal Compliance
DNA Labs UAE operates under DHA Facility License Number 1143 and complies 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. All genetic data is encrypted, access-controlled, and processed solely for diagnostic purposes. Clinical safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Guardian consent is mandatory for minors.
Clinical & Logistical Metadata
| Test Name | NADK2 Gene 2,4-Dienoyl-CoA Reductase Deficiency Genetic Test |
| 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 (NGS) – Full Coding Region & Splice Sites |
| ICD-10-CM Code | E71.3, Z13.71, Z14.8 |
| LOINC Code | 101074-7 |
| DHA Facility License & Laboratory Address | License 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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