Test Price
2,800 AED✅ Home Collection Available
HMGCS2 Gene (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين HMGCS2 (نقص 3-هيدروكسي-3-ميثيلغلوتاريل-تميم الإنزيم A 2) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
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
Overview
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 Protocol
“Every HMGCS2 result must be interpreted within the full clinical context—fasting tolerance, metabolic crises history, and family pedigree. A negative NGS does not exclude the diagnosis if biochemical markers are suggestive; consider further enzymatic testing in cultured fibroblasts.” — Dr. Prabhakar Reddy, DHA License 61713011
⚠ Medication Warning
Do not discontinue prescribed medications (e.g., emergency glucose, carnitine, sodium benzoate) without consulting the ordering physician. Genetic results guide long‑term management, not acute care.
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
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.
يؤكد اختبار التسلسل الجيني من الجيل التالي لجين HMGCS2 وجود طفرات ممرضة على كلا الأليلين، مما يساعد في تشخيص نقص التكون الكيتوني المسؤول عن نوبات نقص سكر الدم المتكررة لدى الأطفال.
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.
لا يشترط الصيام؛ يقوم أخصائي السحب المنزلي بإحضار حقيبة تبريد معقمة وجمع عينة دم وريدي بحجم 1-2 مل في أنبوب EDTA، دون الحاجة لزيارة المختبر.
Can this 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.
نعم، يكشف اختبار اللوحة الجينية حاملات الصفة بتغطية عالية، ويُستخدم في برامج الفحص قبل الزواج للكشف عن طفرات الجين لدى الأقارب المعرضين للخطر.
Compliant with Federal Decree‑Law No. 41 of 2024 (Art. 87), CDS Law of 2026 (Minors), and UAE PDPL. Facility License: 9834453. ISO 9001:2015 Certification: INT/EGQ/2509DA/3139. All clinical decisions must be made in consultation with a DHA‑licensed physician.
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
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.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians