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Test Price

2,800 AED

✅ Home Collection Available

PHKB Gene Glycogen Storage Disease Type 9B Genetic Test in UAE

Executive Summary & Core Metrics

Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited laboratory processing.

Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection across the UAE (8 AM – 11 PM).

Clinical Guidance: Telephonic post‑test clinical result interpretation by DHA‑licensed specialists.

Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The PHKB Gene Glycogen Storage Disease Type 9B NGS Test detects pathogenic variants causing hepatic phosphorylase kinase deficiency, a rare glycogen storage disorder. This advanced next‑generation sequencing (NGS) test provides the most comprehensive genetic analysis available for definitive diagnosis and family risk assessment.

Feature Our Test Closest Alternative
Precision 99.9% (NGS) 95% (Sanger)
Method Next-Generation Sequencing Sanger sequencing
Speed 3–4 Weeks 6–8 Weeks

Physician Insight & Safety Protocols

“This genetic test can accurately detect PHKB pathogenic variants. However, results must be interpreted alongside clinical symptoms and biochemical markers. Do not adjust prescribed dietary therapy or medication based on genetic results alone without consulting a specialist.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License No. 9294403

⚠️ Critical Medication Advisory

Do not discontinue prescribed treatments such as cornstarch or glucose supplements without medical guidance. Results must be integrated with your full clinical picture.

🚨 Exclusion Criteria & Emergency Red Flags

  • Not indicated for asymptomatic individuals without a suspicious family history.
  • Severe hypoglycaemia, recurrent seizures, or signs of liver failure require immediate emergency care – do not wait for test results.
  • Test is not a substitute for regular metabolic monitoring.

Patient FAQ & Clinical Guidance

1. How accurate is the PHKB NGS test for diagnosing glycogen storage disease type 9B?

The PHKB gene next‑generation sequencing test achieves 99.9% diagnostic sensitivity for all known pathogenic variants, providing a definitive molecular diagnosis when paired with clinical and biochemical data.

2. Can the sample be collected at home, and how is it transported?

A certified phlebotomist draws blood at your home using a cold‑chain kit, maintaining stability for DNA extraction under ISO 9001:2015 validated protocols. The collection service is available daily from 8 AM to 11 PM.

3. What ICD‑10 and LOINC codes apply, and what regulatory standards govern this test in the UAE?

The test is associated with ICD‑10‑CM codes E74.0 (glycogen storage disease), Z15.89 (genetic susceptibility), and Z84.89 (family history), and LOINC code 94023-4 (PHKB gene mutation analysis). It complies with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 concerning health information technology.

UAE Regulatory & Data Privacy Adherence

Data Protection & Compliance

This service operates under DHA‑licensed facility No. 1143 and is ISO 9001:2015 certified. All genetic data is handled in accordance with 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. Patient confidentiality and data security are enforced at every stage.

Intended Specialists: General Physicians, Primary Care Doctors, Medical & PhD Researchers for clinical, diagnostic, and investigational purposes.

Clinical & Logistical Metadata

Test Name PHKB Gene Glycogen Storage Disease Type 9B Genetic Test
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Peripheral Whole Blood
Methodology Used Next-Generation Sequencing (NGS)
ICD-10-CM Code E74.0, Z15.89, Z84.89
LOINC Code 94023-4
DHA Facility License & Address DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE

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