Test Price
2,800 AEDโ Home Collection Available
PKLR Gene Adenosine Triphosphate, Elevated Erythrocytes Genetic Test in UAE โ Next Generation Sequencing (NGS) | 2800 AED
Executive Summary & Core Metrics
Executive Summary: Our ISO 9001:2015 accredited laboratory ensures 99.9% diagnostic sensitivity for PKLR gene mutation detection using Next-Generation Sequencing (NGS). We provide premium VIP mobile phlebotomy with temperature-controlled cold-chain home collection, telephonic post-test clinical guidance, and direct insurance verification via WhatsApp.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited 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 in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PKLR gene NGS test provides comprehensive analysis of the entire coding region to detect pathogenic variants causing pyruvate kinase deficiency, a condition that leads to chronic hemolytic anemia. This test is essential for definitive molecular diagnosis, carrier screening, and informed genetic counselling. The analysis is performed on peripheral whole blood specimens collected via our cold-chain home phlebotomy service or at a DHA-licensed collection centre.
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | Full gene coverage, detects single nucleotide variants, indels, and copy-number changes with 99.9% analytical sensitivity | Limited to targeted exons, may miss deep intronic or large deletions |
| Methodology | Next-Generation Sequencing (NGS) aligned to GRCh38/hg38 with AI-driven variant interpretation per ACMG guidelines | Sanger sequencing using capillary electrophoresis, manual analysis |
| Turnaround | 3โ4 Weeks (comprehensive reporting with clinical-grade annotation) | 6โ8 Weeks for multiple exons |
Physician Insight & Safety Protocols
โAs a DHA-licensed Consultant in Medical Genetics with expertise in inherited metabolic and haematological disorders, I emphasise that the PKLR NGS test must be interpreted alongside clinical symptoms and biochemical assays such as pyruvate kinase enzyme activity and complete blood count with reticulocyte parameters. A definitive genetic diagnosis empowers accurate prognosis and family cascade screening. Acute haemolytic crises require immediate emergency intervention and should not be managed based solely on molecular results.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notes & Safety Considerations
Critical Clinical Notice
This genetic test is not intended to replace emergency or routine haematological care. If you experience severe fatigue, jaundice, dark urine, or shortness of breath, seek immediate emergency medical attention. Results from this test should be reviewed with your referring physician during a dedicated post-test teleconsultation.
Exclusion Criteria & Important Red Flags
- This test is not suitable for acute hemolytic crisis diagnosis; urgent CBC, reticulocyte count, and LDH are required in emergency settings.
- Do not use this test as a substitute for emergency hematology consultation.
- If you experience severe fatigue, jaundice, dark urine, or shortness of breath, seek immediate emergency medical care.
- Genetic testing of minors requires guardian consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability and applicable UAE family law provisions.
- Preโtest genetic counselling with a qualified genetic counsellor is mandatory; a detailed family pedigree must be documented prior to sample collection.
Patient FAQ & Clinical Guidance
1. What is the PKLR gene test and why is it performed?
A: The PKLR gene test uses NGS technology to sequence the entire PKLR gene and detect mutations that cause pyruvate kinase deficiency, a hereditary hemolytic anaemia. It is recommended for individuals with unexplained chronic haemolytic anaemia, persistent jaundice, gallstones at a young age, or a family history of the condition. The test provides a definitive molecular diagnosis that guides management and enables carrier screening for at-risk family members.
2. How should I prepare for this genetic test?
A: No fasting or special preparation is required. A peripheral whole blood sample (typically 3โ5 mL in an EDTA tube) is collected by our trained phlebotomist at your home or at an approved collection centre. Prior to collection, a mandatory genetic counselling session will be scheduled to review your medical history, document a three-generation family pedigree, and obtain informed consent in compliance with UAE regulatory standards.
3. When will I receive the results of my PKLR gene test?
A: Results are delivered within 3 to 4 weeks from the date of sample receipt at our laboratory. This processing time ensures comprehensive sequencing coverage, rigorous bioinformatic analysis, and expert variant classification by our Consultant Medical Geneticist. A post-test teleconsultation is included with the report to help you and your referring physician understand the findings and their clinical implications.
4. Can this test be performed on children or individuals with a blood transfusion history?
A: Yes, the test can be performed on individuals of any age, including children, with appropriate guardian consent. For patients who have received a blood transfusion within the preceding 3 months, we recommend collecting a buccal swab (oral sample) instead of blood to avoid donor DNA interference. Our genetic counsellor will advise the optimal sampling method during your pre-test session.
5. What happens if a variant of uncertain significance (VUS) is found?
A: In the event that a VUS is identified, our multidisciplinary team, led by our Consultant Medical Geneticist, will perform additional segregation analysis and functional prediction modelling. A supplementary interpretive report will be issued, and further family testing may be recommended to clarify the variantโs pathogenicity. Your referring physician will be guided through the reclassification process as new evidence emerges.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Security
All genetic testing services at DNA Labs UAE comply fully with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): Ensuring robust security and confidentiality of your genetic and medical information across all digital and physical processing channels.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Governing the safe and ethical use of electronic health data, telemedicine consultations, and digital reporting systems.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Defining the standards of care, informed consent protocols, and professional accountability for all clinicians involved in your diagnostic journey.
DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139)
Clinical & Logistical Metadata
| Test Name | PKLR Gene Adenosine Triphosphate, Elevated Erythrocytes Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA tube) โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) aligned to GRCh38/hg38 |
| ICD-10-CM Code | D55.0 |
| LOINC Code | 60230-6 |
| DHA Facility License & Laboratory Address Invariants | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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