Test Price
2,800 AED✅ Home Collection Available
PGM1 Gene NGS Test for Glycogen Storage Disease Type XIV (GSD14)
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Hospital-grade home sample collection, ISO-certified cold-chain transport, and VIP mobile phlebotomy service (8 AM – 11 PM).
- Clinical Guidance: Complimentary telephonic post-test genetic counselling and result interpretation by DHA-licensed specialists.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PGM1 gene NGS test comprehensively analyses the entire coding region to identify pathogenic variants causative of Glycogen Storage Disease Type XIV, a rare inborn error of glycogen metabolism, providing 99.9% diagnostic sensitivity under ISO 9001:2015 certified protocols. Next-generation sequencing with orthogonal confirmation ensures high accuracy for all variant types, including deep intronic mutations.
| Feature | Our Test (NGS Full Gene) | Closest Alternative (Targeted Panel) |
|---|---|---|
| Precision | 99.9% detection rate for nucleotide variants, including rare deep intronic mutations | ~85% sensitivity; misses novel or non-hotspot variants |
| Method | Next Generation Sequencing (NGS) with orthogonal confirmation | Sanger sequencing of selected exons |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
| Price | 2800 AED | Varies (often not comprehensive) |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I emphasize that this NGS test is a powerful diagnostic tool for GSD14, but results must be interpreted alongside clinical symptoms, family history, and a comprehensive metabolic evaluation. Always consult a specialist before making health decisions based on genetic findings.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue any prescribed medication without consulting your doctor. Genetic test results are not a substitute for ongoing medical care.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: This test is not suitable for individuals without clinical suspicion of GSD14 (e.g., general wellness screening) or for those with an acute febrile illness that requires immediate medical attention before elective genetic testing.
- ER Red Flags: If you experience severe hypoglycemia (confusion, loss of consciousness), sudden muscle weakness, or respiratory distress, seek emergency medical care immediately. Do not wait for test results.
- Minors: Testing minors requires parental/legal guardian consent and a pre-test genetic counselling session in compliance with UAE PDPL and Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. What is the PGM1 gene test used for?
The PGM1 gene NGS test detects pathogenic variants linked to Glycogen Storage Disease Type XIV, enabling early diagnosis and personalized dietary management.
2. How is the sample collected, and can it be done at home?
A certified phlebotomist performs a home-visit blood draw (8 AM – 11 PM) using cold-chain transport, or you may submit a dried blood spot on an FTA card. Whole blood, extracted DNA, or FTA cards are acceptable.
3. Is this test covered by UAE medical insurance?
Many UAE insurers reimburse genetic testing when medically indicated; direct billing verification is available via WhatsApp at +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
This service complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing patient data privacy, and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for electronic health records. Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. All testing is performed at DNA Labs UAE under DHA Facility License 1143.
Clinical & Logistical Metadata
| Test Name | PGM1 Gene NGS Test for Glycogen Storage Disease Type XIV (GSD14) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (also extracted DNA, FTA card) |
| Methodology Used | Next Generation Sequencing (NGS) with orthogonal confirmation |
| ICD-10-CM Code | E74.09 |
| LOINC Code | 82809-0 |
| DHA Facility License & Laboratory Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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