Test Price
2,800 AED✅ Home Collection Available
LDHA Gene (Glycogen Storage Disease Type 11) – NGS Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection daily from 8 AM to 11 PM across all seven UAE emirates.
- Clinical Guidance: Telephonic post-test result interpretation by DHA-licensed clinicians with mandatory pre-test genetic counseling.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Executive Summary (Arabic)
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.
Test Overview & Methodology
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. This NGS-based test sequences the entire coding region of the LDHA gene to detect single nucleotide variants, small insertions and deletions, and copy number variations with high diagnostic yield. 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. Specialists who commonly request this assay include general physicians, sports scientists, exercise physiologists, medical geneticists, and primary care doctors managing metabolic myopathy presentations.
| Parameter | Our Test (ISO 9001:2015 Certified) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision & Coverage | Full gene NGS with >100x 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 Protocols
"As a Consultant Medical Genetics with extensive experience in inherited metabolic disorders, I emphasize that LDHA NGS sequencing is a powerful diagnostic tool but must be interpreted within the full clinical context — including serum lactate dehydrogenase isoenzyme patterns, creatine kinase levels, and a detailed three-generation pedigree. A negative result does not entirely exclude GSD XI if clinical suspicion remains high, and pre- and post-test genetic counseling is mandatory. Variants of uncertain significance require correlation with functional studies and familial segregation analysis."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Safety Advisory
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. Always discuss results with your referring clinician before making any therapeutic changes.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients who have undergone allogeneic bone marrow transplantation within the past 90 days (donor DNA interference may affect results).
- Exclusion: Inability to provide informed consent or attend mandatory pre-test genetic counseling session.
- Emergency Red Flag: If the patient experiences acute-onset severe muscle pain, dark cola-colored urine suggestive of rhabdomyolysis or myoglobinuria, or unexplained fever with muscular rigidity, proceed immediately to the nearest emergency department.
- Emergency Red Flag: Sudden onset of dyspnea, chest pain, or palpitations in a patient with known or suspected GSD XI warrants urgent cardiac evaluation.
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.
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 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 expenses.
4. What are the pre-test requirements before sample collection?
A mandatory genetic counseling session is required prior to sample collection. During this session, a detailed three-generation pedigree chart must be documented covering family members affected with Glycogen Storage Disease Type 11 or related metabolic myopathies. A 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 include whole blood collected in EDTA tubes, extracted DNA meeting quality specifications, or dried blood spot on FTA cards. Patients on anticoagulant therapy should consult our laboratory at +971 54 548 8731 for alternative collection protocols.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection Framework
DNA Labs UAE operates under DHA Facility License Number 1143 and complies fully with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all genomic data handling. All genetic information is encrypted at rest and in transit, stored exclusively within UAE-sovereign data centers, and never shared with third parties without explicit written patient consent. Our laboratory infrastructure also adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure electronic health record integration and telemedicine consultation protocols. Clinical testing safety and patient consent procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and undergoes annual DHA and MOHAP audits for quality management systems and diagnostic accuracy.
Clinical & Logistical Metadata
| Test Name | LDHA Gene (Glycogen Storage Disease Type 11) – NGS Genetic Test |
| Price (AED) | 2800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next Generation Sequencing (NGS) on Illumina Platform |
| ICD-10-CM Code | E74.09 |
| LOINC Code | 94272-7 |
| DHA Facility License & Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
Schedule Your LDHA Gene NGS Test Today
Home Collection Available Daily 8 AM – 11 PM | 3–4 Weeks TAT | 2800 AED | DHA-Certified Laboratory
WhatsApp: +971 54 548 8731
DHA Facility License: 1143 | ISO 9001:2015 (INT/EGQ/2509DA/3139)
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Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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All reports reviewed by DHA-Certified physicians