Test Price
2,800 AED✅ Home Collection Available
KHK Gene (Essential Fructosuria) Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
This NGS-based genetic test analyzes the entire coding region of the KHK gene to confirm or rule out Essential Fructosuria (E74.12), a benign autosomal recessive metabolic trait. The test is processed under ISO-accredited protocols at DNA Labs UAE, ensuring 99.9% diagnostic sensitivity for SNVs, indels, and CNVs.
- ✦ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited NGS Processing.
- ✦ 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 with a Consultant Medical Geneticist included in the service.
- ✦ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
- ✦ Regulatory Compliance: Full adherence to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019.
Test Overview & Methodology
The KHK gene provides instructions for producing fructokinase, the enzyme responsible for the first step of fructose metabolism. Pathogenic variants in KHK lead to Essential Fructosuria, a condition characterized by asymptomatic fructose accumulation in the blood and urine. Accurate genetic diagnosis via Next Generation Sequencing (NGS) is critical to differentiate this benign condition from more serious metabolic disorders such as Hereditary Fructose Intolerance, thereby preventing unnecessary dietary restrictions and invasive diagnostic procedures.
| Feature | DNA Labs UAE NGS Test | Alternative (Standard Sanger) |
|---|---|---|
| Methodology | Next Generation Sequencing (Coverage > 99% of coding exons ±10 bp) | Sanger Sequencing of selected exons only |
| Turnaround Time | 3–4 Weeks (Express available) | 6–8 Weeks |
| Variant Detection | SNVs, Indels, CNVs (via depth analysis) | Only SNVs and small indels in analysed exons |
| Post-Test Support | Included Telephonic Clinical Guidance | Results only, interpretation billed separately |
| UAE Insurance Integration | Direct Billing Verification | Often self-pay only |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I frequently evaluate patients referred for incidental reducing substances in urine. Essential Fructosuria, resulting from KHK gene variants, is a benign metabolic trait that requires no dietary restriction or pharmacological intervention. An NGS-based diagnosis provides definitive clarification, sparing families from unnecessary anxiety and extensive metabolic workups. The genetic results should always be interpreted alongside a detailed dietary and family history.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Safety Advisory
Do not discontinue prescribed medication without consulting your doctor. This genetic test evaluates hereditary metabolic risk and does not assess drug metabolism or toxicity. Any changes to treatment must be made under direct medical supervision.
Exclusion Criteria & Red Flags
- Patients under 18 years require a court‑approved guardian consent in accordance with UAE Federal Law No. 2 of 2019 and Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Acute haemolytic crisis or severe systemic infection: reschedule collection until the patient is clinically stable.
- Known concomitant genetic disorder requiring urgent clinical intervention (e.g., Hereditary Fructose Intolerance) must be ruled out clinically prior to testing.
- Seek emergency care immediately if you experience: confusion, loss of consciousness, or severe abdominal pain—these are not attributable to Essential Fructosuria and require acute medical assessment.
Patient FAQ & Clinical Guidance
1. What is the KHK gene test, and why would I need it?
The KHK gene test uses Next Generation Sequencing (NGS) to detect pathogenic variants associated with Essential Fructosuria. You may need this test if routine urinalysis reveals reducing substances, if you have a family history of the condition, or to differentiate it from more severe metabolic disorders such as Hereditary Fructose Intolerance. Accurate diagnosis confirms the benign nature of the condition, removing the need for restrictive dietary measures.
2. How is the test performed, and does it require fasting?
No fasting or special preparation is required. The test can be performed on a standard whole blood sample (EDTA tube), a dried blood spot on an FTA card, or pre-extracted genomic DNA. Sample collection is available via our VIP Mobile Phlebotomy service at your home or office, or at any DNA Labs UAE facility. The specimen is transported under a strict temperature-controlled cold chain to our Dubai Healthcare City laboratory for processing.
3. What do my results mean for dietary and medical management?
Results are classified according to ACMG guidelines. A positive result (homozygous or compound heterozygous pathogenic variant) confirms Essential Fructosuria. In this benign condition, the enzyme fructokinase is deficient, but fructose-1-phosphate metabolism remains intact, meaning no toxic metabolites accumulate. Therefore, no fructose-restricted diet or medical treatment is required. A negative result rules out KHK-related fructosuria but does not exclude other forms of fructosemia. A telephonic consultation with our Consultant Medical Geneticist is included to explain your results in detail.
UAE Regulatory & Data Privacy Adherence
Your Privacy and Safety Are Legally Protected
DNA Labs UAE operates in full compliance with the UAE's highest standards for medical data protection and laboratory practice. Your genetic information is handled according to 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. Our laboratory holds DHA Facility License 1143 and follows ISO-accredited processes to ensure the confidentiality, integrity, and security of your health data.
- Secure encrypted data storage and transmission.
- Strict access controls based on role-based privileges.
- Explicit patient consent obtained for all genetic testing and data processing.
- Direct billing verification with major UAE insurance providers for eligible plans.
Clinical & Logistical Metadata
| Test Name | KHK Gene (Essential Fructosuria) Genetic Test – NGS Full Gene Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (Express service available upon request) |
| Sample Type / Matrix | Whole Blood (EDTA), FTA Card, or Extracted Genomic DNA |
| Methodology Used | Next Generation Sequencing (NGS) – Full Coding Region & CNV Analysis |
| ICD-10-CM Code | E74.12 |
| LOINC Code | 101379-3 |
| DHA Facility License & Address | DNA Labs UAE | DHA License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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