Test Price
2,800 AED✅ Home Collection Available
LDHA Gene (Glycogen Storage Disease Type 11) – Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين LDHA لمرض تخزين الجليكوجين النوع الحادي عشر بتقنية التسلسل الجيني من الجيل التالي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary & Clinical Assurance
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy (8 AM – 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed clinicians.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
الملخص التنفيذي بالعربية
يقدم هذا التحليل الجيني الشامل فحصاً دقيقاً لجين LDHA المرتبط بمرض تخزين الجليكوجين النوع الحادي عشر، باستخدام أحدث تقنيات التسلسل الجيني من الجيل التالي (NGS) المعتمدة من هيئة الصحة بدبي. نضمن دقة تشخيصية تصل إلى 99.9% من خلال مختبراتنا الحاصلة على شهادة الآيزو 9001:2015، مع خدمة سحب عينات منزلية معقمة ومبردة وفق أعلى المعايير الطبية الإماراتية.
Clinical Overview: LDHA Gene & Glycogen Storage Disease Type 11 (GSD XI)
The LDHA gene encodes the M subunit of lactate dehydrogenase, an enzyme critical for anaerobic glycolysis and the interconversion of pyruvate and lactate. Pathogenic variants in LDHA cause Glycogen Storage Disease Type 11 (GSD XI), a rare autosomal recessive metabolic disorder characterized by exercise-induced myoglobinuria, muscular fatigue, and erythematous skin eruptions. يُعد هذا الفحص الجيني أداة تشخيصية حاسمة لتأكيد الإصابة بمرض تخزين الجليكوجين النوع الحادي عشر. This NGS-based test sequences the entire coding region of the LDHA gene to detect single nucleotide variants, small insertions/deletions, and copy number variations with high diagnostic yield.
| Parameter | Our Test (ISO 9001:2015 Certified) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision & Coverage | Full gene NGS with >100× mean read depth; detects SNVs, indels, and CNVs | Exon-by-exon Sanger; limited CNV detection; lower throughput |
| Methodology | Next Generation Sequencing (NGS) on Illumina platform with bioinformatic validation | Capillary-based Sanger sequencing; manual variant interpretation |
| Turnaround Time | 3 to 4 Weeks | 6 to 10 Weeks (fragmented exon sequencing) |
| Cost in UAE | 2800 AED | 3500–4500 AED (estimated) |
Physician Insight & Safety Protocol
"As a clinician with over two decades of metabolic medicine experience, I emphasize that the LDHA NGS test is a powerful diagnostic adjunct but must be interpreted within the full clinical context — including serum lactate dehydrogenase isoenzyme patterns, creatine kinase levels, and detailed family history. A negative result does not entirely exclude GSD XI if clinical suspicion remains high, and genetic counseling is essential both before and after testing."
— Dr. PRABHAKAR REDDY, DHA License No. 61713011, Consultant in Metabolic & Genetic Medicine
Medication Safety Warning
Do not discontinue any prescribed medication or modify your treatment regimen based solely on genetic test results without consulting your treating physician. Genetic findings require clinical correlation. Abrupt cessation of medications — particularly those managing metabolic, cardiovascular, or neuromuscular conditions — may precipitate serious adverse events.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients who have undergone allogeneic bone marrow transplantation within the past 90 days (donor DNA interference).
- Exclusion: Inability to provide informed consent or attend mandatory pre-test genetic counseling session.
- ER Red Flag: If the patient experiences acute-onset severe muscle pain, dark cola-colored urine (suggestive of rhabdomyolysis/myoglobinuria), or unexplained fever with muscular rigidity, proceed immediately to the nearest emergency department.
- ER Red Flag: Sudden onset of dyspnea, chest pain, or palpitations in a patient with known or suspected GSD XI warrants urgent cardiac evaluation.
UAE Regulatory & E-E-A-T Compliance
Federal Decree-Law No. 41 of 2024 (Art. 87)
All genetic testing services comply with UAE Federal Decree-Law No. 41 of 2024, Article 87, mandating informed consent, genetic data confidentiality, and prohibition of genetic discrimination in health insurance underwriting.
CDS Law 2026 — Minor Protection
Genetic testing for minors strictly requires parental or legal guardian consent as per the 2026 Communicable Disease Surveillance (CDS) Law amendments. Pre-test genetic counseling is mandatory for all pediatric cases.
UAE PDPL — Genetic Data Privacy
Full compliance with the UAE Personal Data Protection Law (PDPL). All genomic data is encrypted at rest and in transit, stored exclusively within UAE-sovereign data centers, and never shared without explicit patient authorization.
ISO 9001:2015 Certification
Laboratory certified under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). Facility License No. 9834453, DHA/MOHAP audited annually for quality management systems and diagnostic accuracy.
Pre-Test Requirements & Sample Collection
Mandatory Pre-Test Protocol: A genetic counseling session is required prior to sample collection to draw a detailed three-generation pedigree chart documenting family members affected with Glycogen Storage Disease Type 11 or related metabolic myopathies. Comprehensive clinical history of the patient, including age of symptom onset, exercise tolerance, history of myoglobinuria episodes, and skin manifestations, must be recorded.
Accepted Sample Types (Choose One):
- Whole Blood: 3–5 mL collected in EDTA (lavender-top) tube. Transport at 2–8°C within 24 hours.
- Extracted DNA: Minimum 2 μg at concentration ≥50 ng/μL with OD 260/280 ratio of 1.8–2.0.
- Dried Blood Spot (FTA Card): One drop of blood on Whatman FTA card, fully dried at ambient temperature before shipment.
Note: Patients must avoid heparin anticoagulants. For patients on anticoagulant therapy, please consult the laboratory at +971 54 548 8731 for alternative collection protocols.
Patient FAQ & Clinical Guidance
1. What does the LDHA gene NGS test diagnose and how accurate is it?
The LDHA gene NGS test diagnoses Glycogen Storage Disease Type 11 (GSD XI) by detecting pathogenic variants in the lactate dehydrogenase A gene with 99.9% diagnostic sensitivity. This test identifies single nucleotide variants, small insertions and deletions, and copy number variations across the entire coding region of LDHA, providing clinicians with a definitive molecular diagnosis when correlated with serum LDH isoenzyme analysis and clinical presentation of exercise-induced myoglobinuria. False negatives are rare but possible with deep intronic variants or regulatory region mutations not captured by the current NGS panel design.
يقوم هذا التحليل بتشخيص مرض تخزين الجليكوجين النوع الحادي عشر عن طريق الكشف عن الطفرات المسببة للمرض في جين LDHA بدقة تصل إلى 99.9%. يُستخدم هذا الفحص لتأكيد التشخيص الجزيئي بالتزامن مع تحليل إنزيمات LDH والتقييم السريري الكامل.
2. Why is the turnaround time 3 to 4 weeks for this genetic test?
The 3-to-4-week turnaround time is necessary because NGS library preparation, high-depth sequencing, and rigorous bioinformatic variant interpretation require multiple quality control checkpoints to ensure clinical-grade accuracy. Each sample undergoes extraction, quantification, library construction, sequencing on an Illumina platform, alignment to the GRCh38 reference genome, variant calling using GATK best practices, and manual curation by a board-certified molecular geneticist. Variants of uncertain significance (VUS) are re-evaluated against population databases including gnomAD and ClinVar before the final report is signed by our DHA-licensed clinical team.
3. Is home sample collection available across all UAE emirates and is it covered by insurance?
Yes, our ISO-certified cold-chain home collection service operates across all seven UAE emirates — including Dubai, Abu Dhabi, Sharjah, Ajman, Umm Al Quwain, Ras Al Khaimah, and Fujairah — from 8 AM to 11 PM daily with VIP mobile phlebotomy teams dispatched within 60 minutes of booking confirmation. Direct billing verification is available via WhatsApp at +971 54 548 8731; our insurance coordination team will confirm coverage eligibility with your provider (including Daman, AXA, Neuron, NAS, Nextcare, and others) before your appointment, ensuring transparency and minimizing out-of-pocket surprises.
نعم، نوفر خدمة سحب العينات المنزلية المعقمة والمبردة في جميع إمارات الدولة السبع، من الساعة الثامنة صباحاً حتى الحادية عشرة مساءً، مع إمكانية التحقق المباشر من تغطية التأمين الصحي عبر الواتساب على الرقم +971 54 548 8731.
Target Specialists & Clinical Indications
This test is clinically indicated for patients presenting with unexplained exercise intolerance, recurrent myoglobinuria, persistently low serum LDH activity, or a family history consistent with autosomal recessive GSD XI.
Schedule Your LDHA Gene NGS Today
Home Collection Available | 3–4 Weeks TAT | 2800 AED | DHA-Certified Laboratory
WhatsApp: +971 54 548 8731
Facility License: 9834453 | ISO 9001:2015 (INT/EGQ/2509DA/3139)
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