Test Price
2,800 AEDโ Home Collection Available
PGK1 Gene Phosphoglycerate Kinase 1 Deficiency Genetic Test (NGS) โ 2,800 AED
Executive Summary & Core Metrics
Clinical Snapshot & Quality Assurance
- Diagnostic Accuracy: 99.9% sensitivity for coding and splice-site variants via ISO 9001:2015 accredited NGS workflow (Cert: INT/EGQ/2509DA/3139).
- Specimen Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection โ available daily 8โฏAM to 11โฏPM.
- Post-Test Support: Telephonic clinical guidance by our DHA-licensed genetics team for result interpretation and family counselling.
- Insurance & Billing: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PGK1 Gene NGS Test provides comprehensive sequencing of the entire coding region and splice sites of the PGK1 gene to detect pathogenic variants responsible for phosphoglycerate kinase 1 deficiency. This rare X-linked metabolic disorder presents with hemolytic anemia, myopathy, and progressive neurological impairment. Next-Generation Sequencing replaces traditional biochemical enzyme assays, offering definitive molecular diagnosis with superior sensitivity for personalised treatment planning and family counselling.
| Feature | Our NGS PGK1 Test | Biochemical Enzyme Assay (Alternative) |
|---|---|---|
| Methodology | NGS โ full gene coverage including copy-number variants | Enzymatic activity measurement in erythrocytes |
| Diagnostic Sensitivity | >99.9% for coding and splice-site variants | ~85% โ may miss carriers or manifesting females |
| Turnaround Time | 3โ4 Weeks | 2โ4 Days (fresh sample required) |
| Clinical Scope | Neurological, haematological, myopathic, full pedigree risk | Limited to hemolytic assessment only |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403), states: โMolecular confirmation of PGK1 deficiency through NGS provides the cornerstone for accurate diagnosis and targeted management. However, genetic findings must always be correlated with full clinical and family history. No patient should modify or discontinue prescribed therapy based solely on a genetic result without direct consultation with their treating specialist.โ
Advisory Note on Medication Continuity
โ ๏ธ Do not alter or stop any prescribed medication or treatment regimen without explicit guidance from your managing physician. Genetic test results are one component of a comprehensive clinical assessment and must never replace professional medical advice.
Safety Exclusion Criteria & Urgent Referral Indicators
- Exclusion: Inability to provide a venous blood sample or FTA card due to severe bleeding disorders or extreme needle aversion.
- Exclusion: Prior definitive molecular diagnosis of PGK1 deficiency by an accredited laboratory โ repeat testing is not clinically indicated.
- Red Flag: Acute hemolytic crisis presenting with jaundice, dark urine, or sudden profound fatigue โ seek emergency care immediately.
- Red Flag: Rapid onset of muscle weakness, respiratory difficulty, or unexplained falls suggesting acute myopathic decompensation.
- Red Flag: New-onset seizures or loss of consciousness requires urgent neurological evaluation.
Patient FAQ & Clinical Guidance
1. What does the PGK1 gene test detect?
This NGS test sequences the entire PGK1 gene to identify pathogenic mutations responsible for phosphoglycerate kinase 1 deficiency, a rare X-linked metabolic disorder affecting energy metabolism in erythrocytes, skeletal muscle, and brain tissue. The analysis captures single nucleotide variants, small insertions/deletions, and copy-number changes, providing a definitive molecular diagnosis for patients with unexplained hemolytic anemia, myopathy, or extrapyramidal neurological features.
2. Who should consider this NGS PGK1 test?
Individuals presenting with unexplained hemolytic anemia, chronic myopathy, movement disorders resembling parkinsonism, or a family history consistent with X-linked PGK1 deficiency are appropriate candidates. The test is also valuable for carrier detection in at-risk female relatives and for reproductive planning when a familial variant is known. Evaluation under the guidance of a neurologist, haematologist, or clinical geneticist is recommended.
3. How accurate is NGS testing for PGK1 deficiency?
Our ISO-accredited NGS workflow achieves 99.9% diagnostic sensitivity for all clinically relevant coding and splice-site variants in the PGK1 gene, with results validated through orthogonal confirmatory methods and bioinformatic filtering per ACMG guidelines. False-negative rates are minimal for pathogenic variants; however, deep intronic or regulatory region mutations may require additional complementary analysis.
UAE Regulatory & Data Privacy Adherence
Commitment to Compliance and Data Protection
- Data Privacy: Fully compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring all genetic and personal information is processed, stored, and transmitted with the highest security standards.
- Health Data Governance: Adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, governing the secure handling of electronic health records and telemedicine interactions.
- Clinical Safety: All diagnostic procedures and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability, safeguarding patient rights and clinical accountability.
- Accreditation: ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and fully licensed by the Dubai Health Authority under facility license number 1143.
Clinical & Logistical Metadata
| Test Name | PGK1 Gene Phosphoglycerate Kinase 1 Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full Gene Coverage |
| ICD-10-CM Code | E74.0 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
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