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Test Price

2,800 AED

✅ Home Collection Available

PYGL Gene Glycogen Storage Disease Type VI (Hers Disease) Genetic Test in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

This next‑generation sequencing (NGS) test provides 99.9% diagnostic accuracy for PYGL gene mutations causing Glycogen Storage Disease Type VI (Hers disease). Completed within 3–4 weeks, it includes hospital‑grade home collection (VIP mobile phlebotomy, 8 AM–11 PM) with temperature‑controlled cold‑chain logistics. Post‑test telephonic genetic counseling is provided. Price: 2,800 AED – direct insurance billing available via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The PYGL gene NGS test sequences the entire coding region and splice sites to identify pathogenic variants responsible for Hers disease (GSD VI). This comprehensive analysis uncovers missense, nonsense, frameshift, and splice‑site mutations with near‑perfect sensitivity.

Feature DNA Labs UAE – PYGL NGS Test Closest Alternative
Methodology Next‑Generation Sequencing (full gene) Targeted hot‑spot panel
Diagnostic Sensitivity 99.9% (ISO‑15189 validated) ~70–80% (misses rare variants)
Turnaround Time 3–4 weeks 6–8 weeks
Home Collection VIP mobile phlebotomy + cold‑chain transport (8 AM–11 PM) Clinic visit only
Post‑Test Support Telephonic genetic counselling Report only
Price 2,800 AED (insurance direct billing) 3,200 AED (self‑pay)

Physician Insight & Safety Protocols

“In my practice, a definitive molecular diagnosis in suspected glycogen storage disease allows for precise dietary intervention and avoids unnecessary invasive procedures. The PYGL NGS test delivers that clarity with outstanding accuracy. However, the result must always be correlated with clinical findings, liver enzymes, and fasting metabolic studies. I encourage families to discuss the implications with their specialist before making any treatment changes.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Safety Advisory & Medication Notice

⚠ Do Not Discontinue Prescribed Therapy Without Medical Advice

Abruptly stopping cornstarch therapy or other glucose‑stabilising medications can provoke severe hypoglycaemia and metabolic decompensation. Always consult your managing physician before altering the treatment regimen.

Exclusion Criteria & Emergency Red Flags

🚨 Immediate Actions Required

  • Do not collect if: the patient has a current febrile illness, received a blood transfusion within the past two weeks, or lacks a clear clinical indication for PYGL testing.
  • Seek emergency care (call 998) if: blood glucose falls below 45 mg/dL accompanied by drowsiness, seizure, or unconsciousness; or if signs of acute liver failure develop (persistent vomiting, confusion, jaundice).

Patient FAQ & Clinical Guidance

1. What is the PYGL gene test for glycogen storage disease type VI?

The PYGL NGS test sequences the entire PYGL gene to identify disease‑causing mutations, confirming Hers disease (GSD VI) with near‑total accuracy. It is indicated when clinical signs (hepatomegaly, ketotic hypoglycemia) and biochemical testing suggest a glycogen storage disorder. A positive result enables tailored dietary management and family screening.

2. How is the sample collected, and is home collection really safe?

A 3–5 mL blood sample is drawn by a DHA‑licensed phlebotomist at your home using a temperature‑controlled transport kit to preserve DNA integrity. The FTA card option requires only a finger‑prick drop of blood, making collection simple for infants. Our ISO‑certified cold‑chain logistics (ISO 9001:2015) guarantee sample stability from doorstep to lab.

3. How long do results take and what does 99.9% diagnostic sensitivity mean?

Final reports are ready in 3–4 weeks; the 99.9% sensitivity figure means the test rarely misses any disease‑causing variant when sample quality is optimal. A “no mutation detected” result reduces the likelihood of GSD VI but does not completely rule out the disease if a deep intronic variant or copy‑number change is present; clinical correlation remains essential.

UAE Regulatory & Data Privacy Adherence

Compliance Framework

DNA Labs UAE operates under DHA Facility License No. 1143 and adheres to Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) for the secure handling of genetic information. All clinical data processing follows Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Patient safety and informed consent are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability.

Clinical & Logistical Metadata

Test Name PYGL Gene NGS – Glycogen Storage Disease Type VI (Hers Disease) Genetic Test
Price (AED) 2,800 AED (insurance direct billing available)
Turnaround Time 3–4 weeks (21–28 calendar days)
Sample Type / Matrix Whole blood (3–5 mL), extracted DNA, or FTA card blood spot. VIP mobile phlebotomy & temperature‑controlled cold‑chain home collection available daily 8 AM–11 PM.
Methodology Used Next‑Generation Sequencing (NGS) – full gene analysis
ICD‑10‑CM Code E74.03 (Glycogen storage disease, type VI – Hers disease)
LOINC Code 91818-9 (Gene sequencing)
DHA Facility License & Laboratory Address License No. 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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