Test Price
2,800 AED✅ Home Collection Available
HMGCL Gene (3‑Hydroxy‑3‑Methylglutaryl‑CoA Lyase Deficiency) NGS Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Clinical-Grade Diagnostic Excellence
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS processing covering all coding regions of the HMGCL gene.
- Premium Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test result interpretation by a certified Consultant Medical Geneticist.
- Insurance Support: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced genetic test analyzes the HMGCL gene using next‑generation sequencing (NGS) to identify pathogenic variants linked to 3‑hydroxy‑3‑methylglutaryl‑CoA lyase deficiency—a rare autosomal recessive inborn error of metabolism affecting leucine breakdown. In the UAE, this test supports early diagnosis, dietary management guidance, carrier screening, and family risk assessment under current DHA precision medicine standards.
Why Our HMGCL NGS Test Outperforms Sanger Sequencing
| Feature | Our Test (HMGCL NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% sensitivity & specificity for all coding regions | ~95% per fragment; limited to known hotspots |
| Method | Next‑Generation Sequencing (NGS), ISO 9001:2015 accredited | Sanger sequencing; may require multiple separate assays |
| Turnaround Time | 3–4 weeks | 4–6 weeks (cumulative) |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I recognize that considering a genetic test for yourself or your child can feel overwhelming. This NGS-based HMGCL analysis provides crucial diagnostic answers, but results must always be correlated with the full clinical picture, family history, and metabolic laboratory findings. Our team is committed to supporting you through every step—from pre-test counseling to post-result management planning.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory — Do Not Alter Prescribed Therapy
Important: Do not discontinue, adjust, or modify any prescribed medication or dietary regimen without explicit instruction from your treating physician. This genetic test is a diagnostic aid and does not replace ongoing clinical management.
Important Exclusion & Safety Information
- Exclusion Criteria: Individuals unable to provide informed consent (minors require legal guardian consent). Patients with acute metabolic decompensation requiring emergency stabilization should postpone elective genetic testing.
- Emergency Red Flags While Awaiting Results: If the patient develops severe vomiting, unexplained lethargy, hypoglycemia, metabolic acidosis without ketosis, or rapid breathing, seek immediate emergency medical attention and inform your metabolic specialist.
- Mandatory Genetic Counseling: Pre-test genetic counseling with pedigree charting and informed consent is required before sample collection, in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. What is the HMGCL NGS test and why is it performed?
Quick Answer: The HMGCL NGS test identifies disease-causing mutations in the HMGCL gene responsible for HMG‑CoA lyase deficiency, a rare metabolic disorder. It is performed to confirm diagnosis in symptomatic individuals, guide dietary therapy, assess carrier status, and inform family planning.
This test sequences the entire coding region of the HMGCL gene using high-sensitivity NGS to detect variants associated with the autosomal recessive condition 3‑hydroxy‑3‑methylglutaryl‑CoA lyase deficiency. It is ordered when clinical symptoms—such as hypoglycemia, metabolic acidosis without ketosis, vomiting, lethargy, or encephalopathy—or a positive family history suggest the disorder. The result aids in confirming the diagnosis, tailoring leucine-restricted dietary management, and providing recurrence risk counseling for at-risk family members.
2. How is the sample collected and what is the turnaround time?
Quick Answer: A venous blood sample, buccal swab, or FTA card dried blood spot is collected. Results are available within 3 to 4 weeks from sample receipt at the laboratory.
Our VIP mobile phlebotomy team arrives at your location with ISO-certified temperature-controlled cold-chain transport, operating daily from 8 AM to 11 PM. Acceptable specimen types include standard whole blood (EDTA tube), buccal epithelial swabs, dried blood spots on FTA cards, or previously extracted genomic DNA. The laboratory processes the specimen using validated NGS chemistry covering all coding exons and splice junctions of HMGCL. A comprehensive clinical report is delivered within 3–4 weeks, followed by a telephonic genetic counseling session to explain findings and recommendations.
3. Is genetic counseling required before undergoing this test?
Quick Answer: Yes, pre-test genetic counseling with a certified genetics professional is mandatory to ensure fully informed consent and accurate result interpretation.
Per Federal Decree-Law No. 4 of 2016 on Medical Liability and DHA clinical guidelines, pre-test genetic counseling is a regulatory requirement. Our Consultant Medical Geneticist will conduct a comprehensive session that includes pedigree charting, explanation of autosomal recessive inheritance patterns, discussion of possible outcomes (positive, negative, variant of uncertain significance), and psychosocial impact assessment. Informed consent is obtained only after this session. Post-test counseling is also provided to contextualize findings and coordinate with your metabolic specialist for ongoing management.
4. What does the test report include and how are results interpreted?
Quick Answer: The report lists all detected variants classified according to ACMG/AMP guidelines, along with clinical interpretation, carrier status, and recommendations for family cascade testing.
The final clinical report includes a summary of gene coverage metrics, a detailed list of identified variants with their pathogenicity classification (pathogenic, likely pathogenic, variant of uncertain significance, likely benign, benign) based on ACMG/AMP 2015 standards, relevant phenotype correlations, and recommendations for biochemical follow-up testing (e.g., plasma acylcarnitine profile, urine organic acids). Results are discussed during a mandatory post-test genetic counseling session to ensure you fully understand the implications and next steps.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection Framework
All genetic testing and data handling procedures at DNA Labs UAE strictly comply with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — governing the collection, processing, storage, and transfer of personal and genetic data with explicit consent and data minimization principles.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — regulating electronic health records, telemedicine, and digital clinical data security.
- Federal Decree-Law No. 4 of 2016 on Medical Liability — establishing medico-legal standards for diagnostic procedures, informed consent, and genetic counseling obligations.
- All laboratory processes maintain ISO 9001:2015 certification, and genetic data is encrypted, access-controlled, and never shared with third parties without explicit written authorization from the patient or legal guardian.
Clinical & Logistical Metadata
| Test Name | HMGCL Gene (3‑Hydroxy‑3‑Methylglutaryl‑CoA Lyase Deficiency) NGS Analysis |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Buccal Swab, or FTA Card Dried Blood Spot |
| Methodology Used | Next‑Generation Sequencing (NGS) – Whole Gene Coding Region & Splice Junction Analysis |
| ICD-10-CM Code | E71.1 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | DHA Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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