Test Price
2,800 AED✅ Home Collection Available
PKLR Gene Pyruvate Kinase Deficiency & Hemolytic Anemia Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Diagnosis You Can Trust
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing.
- Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Complimentary telephonic post-test clinical guidance for result interpretation by a board-certified genetic counselor.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The PKLR Gene Pyruvate Kinase Deficiency (PKD) Genetic Test is a definitive molecular diagnostic tool that screens the entire PKLR gene for pathogenic variants causing hereditary hemolytic anemia. This test enables precise risk stratification, carrier detection, and family planning for autosomal recessive pyruvate kinase deficiency.
Designed for hematologists, clinical geneticists, and metabolic physicians, this high-yield NGS assay detects single nucleotide variants, small insertions and deletions, and copy number changes across all coding exons, splice sites, and promoter regions, ensuring no clinically relevant lesion is missed. All identified variants are confirmed by bidirectional Sanger sequencing.
| Feature | PKLR NGS Test by DNA Labs UAE | Enzymatic Activity Assay |
|---|---|---|
| Diagnostic Scope | 99.9% accuracy for pathogenic variants; detects carriers, mosaicism, and compound heterozygotes | Quantifies enzyme activity only; may miss late-onset, mild, or silent carrier alleles |
| Methodology | Next-Generation Sequencing with Sanger confirmation of all clinically significant variants | Fluorometric kinetic assay measuring NADH consumption at 340 nm |
| Turnaround Time | 21–28 Calendar Days | 2–5 Working Days |
Physician Insight & Safety Protocols
"Molecular analysis of the PKLR gene delivers essential diagnostic clarity for hereditary non-spherocytic hemolytic anemia. However, results must always be integrated with peripheral smear morphology, reticulocyte count, unconjugated bilirubin, and lactate dehydrogenase levels. A comprehensive three-generation pedigree is critical for accurate segregation analysis and recurrence risk counseling. This genetic test is a component of a complete hematological workup and should never be interpreted in isolation for therapeutic decision-making."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice: Medication Continuity
Do not discontinue, alter, or adjust any prescribed hematological or supportive therapy without explicit direction from your treating physician. This genetic test provides diagnostic information and does not replace ongoing clinical monitoring or acute crisis management protocols established by your healthcare provider.
Exclusion Criteria & Emergency Indicators
- Exclusion: Inability to provide informed consent or participate in mandatory pre-test and post-test genetic counselling sessions.
- Transfusion Restriction: Whole blood samples must be collected prior to any packed red blood cell transfusion. If already transfused, a minimum eight-week washout period is required to prevent donor DNA interference and ensure analysis of endogenous patient DNA.
- Urgent Medical Attention: Sudden severe back or abdominal pain, rapidly progressive jaundice with dark urine, fever exceeding 38.5°C, confusion, or syncope are indicators of acute hemolytic crisis — proceed immediately to the nearest hospital emergency department.
Patient FAQ & Clinical Guidance
1. What does the PKLR gene test detect?
This NGS-based diagnostic test comprehensively identifies disease-causing mutations in the PKLR gene responsible for pyruvate kinase deficiency, an autosomal recessive disorder causing hereditary non-spherocytic hemolytic anemia. The assay covers all coding exons, flanking intronic regions, splice sites, and the promoter region, delivering definitive molecular classification for clinical management, carrier screening, and family planning.
2. How should I prepare, and what sample is required?
A mandatory pre-test genetic counselling session is scheduled to document a detailed three-generation family pedigree and obtain informed consent. Following counselling, a peripheral whole blood sample (3–5 mL in EDTA) is collected. No fasting is required. If you are taking anticoagulant therapy, please inform the collection team. For previously transfused individuals, sample collection must occur before transfusion or after an eight-week washout window to ensure analysis of your endogenous DNA.
3. Is this test covered by UAE insurance, and when will I receive results?
Many UAE health insurance providers cover medically indicated genetic testing for hereditary hemolytic anemias. Verify your policy benefits and direct billing eligibility instantly by messaging +971 54 548 8731 on WhatsApp. Results are issued within 21 to 28 calendar days, inclusive of NGS sequencing, bioinformatic analysis, variant interpretation by board-certified molecular geneticists, and generation of a comprehensive clinical report compliant with DHA standards.
4. What does the result report include?
Your clinical report specifies each detected variant using HGVS nomenclature, its classification according to ACMG/AMP guidelines (pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign), predicted impact on pyruvate kinase enzyme function, and interpretive comments with inheritance pattern and family implications. A post-test telephonic consultation with a genetic counselor is included to explain findings and discuss management options.
UAE Regulatory & Data Privacy Adherence
Data Protection & Healthcare Compliance Framework
All genetic data processing, storage, and transmission at DNA Labs UAE is conducted in strict adherence 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. Clinical safety and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
Your genetic information is encrypted, access-restricted, and retained only for the duration required by UAE healthcare regulations. Results are shared exclusively with you and your referring physician upon explicit written authorization. No third-party data sharing occurs without your informed consent.
ISO 9001:2015 certified laboratory (Certificate: INT/EGQ/2509DA/3139) ensuring rigorous quality management across all diagnostic workflows.
Clinical & Logistical Metadata
| Test Name | PKLR Gene Pyruvate Kinase Deficiency with Hemolytic Anemia Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 Calendar Days (3–4 Weeks) |
| Sample Type / Matrix | Peripheral Whole Blood (3–5 mL in EDTA), Extracted DNA, or FTA Card Dried Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) + Sanger Confirmation |
| ICD-10-CM Code | D55.0 |
| LOINC Code | 21636-6 |
| DHA Facility License & Location | DHA License No. 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians