Test Price
2,800 AED✅ Home Collection Available
PHKG2 Gene (Glycogen Storage Disease Type IXc) Genetic Test in UAE
Executive Summary & Core Metrics
- Analytical Sensitivity: 99.9% diagnostic yield for PHKG2 pathogenic variants via ISO 9001:2015–certified next-generation sequencing (Cert: INT/EGQ/2509DA/3139).
- Collection Logistics: VIP mobile phlebotomy & temperature-controlled cold-chain home collection, daily 8 AM – 11 PM, with ISO-certified transport integrity.
- Post-Test Guidance: Complimentary telephonic consultation with a DHA-licensed Consultant Medical Genetics (Lina Osama Zaki Quteineh, DHA: 9294403) for result interpretation and family management planning.
- Insurance Billing: Direct billing verification via WhatsApp +971 54 548 8731; claims processed in full compliance with UAE PDPL frameworks.
Test Overview & Methodology
The PHKG2 gene test employs next‑generation sequencing (NGS) to detect disease‑causing variants associated with glycogen storage disease type IXc (GSD IXc), a rare autosomal recessive disorder impairing hepatic and muscle glycogenolysis. Comprehensive analysis of all coding exons, splice‑site junctions, and flanking intronic regions enables definitive diagnosis, carrier identification, and familial risk stratification.
| Feature | Our Test (NGS Gold Standard) | Single‑Gene Sequencing Alternative |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity for PHKG2 point mutations, small indels, and copy‑number variants (CNVs) via orthogonal MLPA backup | Restricted to common point mutations; deep intronic or large deletions frequently missed |
| Methodology | Full-gene NGS + MLPA for CNV confirmation | Sanger sequencing of selected exons only |
| Turnaround Time | 3–4 weeks | 5–8 weeks (iterative testing cycles) |
Physician Insight & Safety Protocols
“Detection of a pathogenic PHKG2 variant by NGS must be rigorously correlated with clinical markers—fasting glucose, transaminase elevation, and hepatic imaging. A negative sequencing result does not exclude other metabolic hepatopathies; comprehensive biochemical profiling remains essential. Pre‑test genetic counselling is mandatory for all families, particularly when minors are tested, as stipulated under Federal Decree‑Law No. 4 of 2016 on Medical Liability.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA: 9294403)
Medication Safety Advisory
Patients receiving uncooked cornstarch therapy or diazoxide must not discontinue treatment without hepatology consultation. Abrupt cessation may trigger life‑threatening hypoglycemic episodes requiring emergency medical intervention.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Inability to provide informed consent (or guardian consent for minors); hemodynamic instability contraindicating venipuncture; active febrile illness requiring acute care.
- ER Red Flags: Blood glucose below 40 mg/dL unresponsive to oral intake; INR exceeding 2.0 with hepatic encephalopathy; metabolic acidosis (pH < 7.2, HCO₃ < 12 mmol/L) after short fasting. Immediate emergency evaluation is required.
Patient FAQ & Clinical Guidance
1. What is the PHKG2 genetic test and who should consider it?
The PHKG2 NGS test identifies pathogenic variants in the PHKG2 gene, enabling definitive diagnosis of glycogen storage disease type IXc in individuals with unexplained hepatomegaly, fasting hypoglycemia, or growth delay. It is also appropriate for asymptomatic siblings of confirmed patients, couples planning a pregnancy with a family history of GSD, and individuals seeking carrier status. A pre‑test genetic counselling session—mandatory in the UAE—will include a detailed pedigree to guide interpretation.
2. How is the sample collected and is a hospital visit required?
A certified phlebotomist collects a blood sample from your home or office using the ISO‑certified cold‑chain VIP mobile service, available daily from 8 AM to 11 PM. One EDTA tube or a single drop on an FTA card is sufficient; no fasting or special preparation is needed. The specimen is transported at 2–8 °C to our DHA‑licensed laboratory for DNA extraction and NGS processing, strictly adhering to UAE PDPL privacy standards.
3. When will I receive my results and what do they mean?
The full NGS report is issued within 3 to 4 weeks, accompanied by a telephonic consultation with a DHA‑licensed Consultant Medical Genetics who explains the clinical significance of any detected variants. A positive result confirms a disease‑causing mutation and triggers coordinated management—dietary cornstarch therapy, hepatology follow‑up, and family cascade screening. A negative result reduces but does not eliminate the risk of other metabolic disorders, warranting continued clinical surveillance. Reports are coded with ICD‑10‑CM E74.09 for insurance purposes; direct billing can be arranged via WhatsApp (+971 54 548 8731).
4. What are the legal and privacy protections for my genetic data?
Your genetic information is safeguarded under 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 sequencing data is encrypted, access‑controlled, and retained only as long as necessary for clinical care and regulatory compliance. You have the right to access, correct, and request deletion of your data at any time.
UAE Regulatory & Data Privacy Adherence
Your privacy and safety are protected by three federal pillars:
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL): Governs the collection, processing, and storage of your genetic and health data with strict consent, purpose limitation, and data minimization requirements.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Ensures that all digital health platforms, electronic health records, and telemedicine services meet mandatory security and interoperability standards.
- Federal Decree‑Law No. 4 of 2016 on Medical Liability: Establishes the legal framework for informed consent, clinical accountability, and patient safety across all diagnostic and therapeutic procedures.
DHA Facility License No. 1143 · Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Clinical & Logistical Metadata
| Test Name | PHKG2 Gene (Glycogen Storage Disease Type IXc) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA tube or FTA card) |
| Methodology Used | Next-Generation Sequencing (Full Gene Analysis) + MLPA for CNV Confirmation |
| ICD-10-CM Code | E74.09 |
| LOINC Code | 92876-8 |
| DHA Facility License & Address | 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