Test Price
2,800 AED✅ Home Collection Available
HMGCS2 Gene (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency) NGS Genetic Test in UAE
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing
Hospital-Grade Cold-Chain Home Collection & VIP Mobile Phlebotomy
Telephonic Post-Test Clinical Guidance with Senior Genetic Counsellor
Direct Insurance Billing Verification via WhatsApp: +971 54 548 8731
The HMGCS2 NGS test is the definitive molecular diagnostic assay for confirming 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency, a rare autosomal recessive disorder of ketone body metabolism. Performed at our DHA-licensed laboratory, this test achieves 99.9% diagnostic sensitivity through comprehensive next-generation sequencing of the entire HMGCS2 coding region, splice junctions, and deep intronic hotspots. Results are delivered within 3–4 weeks with complimentary telephonic genetic counselling.
Test Overview & Methodology
The HMGCS2 NGS test sequences the entire coding region of the HMGCS2 gene to detect pathogenic variants causing 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency, a recessively inherited disorder of ketone body synthesis. This comprehensive analysis replaces single‑gene Sanger sequencing with massively parallel next‑generation sequencing, delivering full coverage of exons, splice junctions, and deep intronic hotspot regions with < 0.1% false‑negative rate.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Method | NGS (Illumina® platform, 150× mean coverage) | Sanger sequencing (single‑gene) |
| Sensitivity | 99.9% for SNVs, indels, CNVs | ~95% (misses large deletions) |
| Turnaround | 3–4 Weeks | 6–8 Weeks |
| Clinical Utility | Full gene; carrier & prenatal screening | Point mutation only |
Physician Insight & Safety Protocols
“A negative HMGCS2 NGS result does not completely exclude the diagnosis when clinical and biochemical hallmarks—fasting hypoketotic hypoglycaemia, elevated plasma fatty acids, and low ketone bodies—are strongly suggestive. In such cases, enzymatic assay in cultured fibroblasts or muscle biopsy should be considered. All findings must be correlated with family pedigree and metabolic crisis history.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠ Advisory — Medication Continuation
Maintain all prescribed therapies—including emergency glucose, carnitine, and sodium benzoate—exactly as directed by the managing physician. Genetic test results inform long-term metabolic management and family planning; they do not replace acute clinical intervention during a decompensation episode.
Exclusion Criteria & Emergency Red Flags
- Acute metabolic decompensation (vomiting, lethargy, hypoglycaemia) → immediate ER visit required
- Known allergy to phlebotomy supplies or adhesive tapes
- Active infection with fever >38.5°C – reschedule collection
- If an individual cannot provide informed consent, legal guardian must be present
- Previous total‑body radiation or recent blood transfusion (< 2 weeks) may affect DNA quality
Patient FAQ & Clinical Guidance
1. What is the clinical utility of the HMGCS2 NGS test for a child with recurrent hypoglycaemia?
This NGS test identifies biallelic pathogenic variants in HMGCS2 with 99.9% sensitivity, confirming or excluding the most common genetic cause of fasting hypoketotic hypoglycaemia in children. Results guide dietary therapy, emergency management planning, and family carrier screening.
2. How should I prepare for the home blood collection service?
No fasting is required; our mobile phlebotomist brings a refrigerated transport kit and can collect 1–2 ml of whole blood in an EDTA tube from any comfortable setting. The sample remains stable in temperature-controlled cold-chain conditions until laboratory processing.
3. Can this test be used for carrier screening before marriage?
Yes, NGS panels detect heterozygous carriers with >99% accuracy, making it suitable for premarital genetic counselling in families with a history of HMGCS2 deficiency. Results should be reviewed with a consultant medical geneticist to assess reproductive risk.
4. What is the turnaround time and how will I receive the report?
Turnaround time is 3–4 weeks from sample receipt. The final clinical report is delivered electronically via secure email and is also accessible through our patient portal. A telephonic post-test consultation with a senior genetic counsellor is included.
UAE Regulatory & Data Privacy Adherence
Full Compliance with UAE Federal Laws
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — all genomic data is encrypted, access-controlled, and processed with explicit patient consent.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — electronic health records and tele-counselling platforms meet mandated cybersecurity and interoperability standards.
- Federal Decree-Law No. 4 of 2016 on Medical Liability — clinical testing, patient consent, and safety protocols adhere to the federal framework for medical responsibility.
DHA Facility License: 1143 | ISO 9001:2015 Certification: INT/EGQ/2509DA/3139
Clinical & Logistical Metadata
| Test Name | HMGCS2 Gene (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency) NGS Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) — VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) — Illumina® Platform, 150× Mean Coverage |
| ICD-10-CM Code | E71.1 |
| LOINC Code | 93356-4 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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