Test Price
2,800 AED✅ Home Collection Available
HDAC4 Gene Mutation Analysis for Brachydactyly-Mental Retardation Syndrome (NGS) in UAE | 2,800 AED | 2026 DHA Guidelines
تحليل جين HDAC4 لمتلازمة قصر الأصابع والتخلف العقلي بتقنية التسلسل الجيني المتقدم (NGS) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary – UAE Patient‑First Commitment
- Diagnostic Accuracy: 99.9% sensitivity for single‑nucleotide variants and indels via ISO‑accredited NGS – definitive confirmation of HDAC4‑related brachydactyly‑mental retardation syndrome.
- Premium Home Collection: Hospital‑grade phlebotomy service (8 AM – 11 PM) using ISO‑certified cold‑chain transport; sample options: whole blood, DNA FTA card, or extracted DNA.
- Clinical Guidance: Post‑test telephonic interpretation with a DHA‑licensed clinical geneticist to translate results into actionable care plans.
- Insurance & Billing: Direct verification via WhatsApp at +971 54 548 8731; we handle pre‑approvals under UAE PDPL.
Clinical Overview & Test Comparison
This next‑generation sequencing (NGS) test comprehensively analyses the HDAC4 gene for pathogenic variants causing Brachydactyly‑Mental Retardation Syndrome (BDMR), an autosomal dominant condition marked by brachydactyly type E, intellectual disability, and distinct dysmorphic features. الدقة التشخيصية الجزيئية تُسهم في توجيه الرعاية الطبية وخطط التدخل المبكر.
| Feature | Our Test (Ingenomics DHA Certified) | Closest Alternative (Sanger or CMA) |
|---|---|---|
| Methodology | Triple‑validated NGS (whole gene coverage) | Single‑gene Sanger or chromosomal microarray |
| Variant Detection | SNVs, indels, CNVs ≥1 kb | Misses large deletions / point mutations |
| Turnaround Time | 3–4 Weeks | 6–12 Weeks (Sanger) or 4–8 Weeks (CMA) |
| Price (AED) | 2,800 | 3,500 – 5,000 |
| Clinical Relevance | Directly confirms BDMR etiology | Often requires reflex to NGS for complete answer |
Physician Insight & Safety Protocol
“As a pediatrician, I recognise the emotional and diagnostic challenges families face when faced with brachydactyly and developmental delay. This NGS test offers clear molecular confirmation, enabling early intervention and genetic counselling tailored to your child’s exact mutation; nevertheless, a negative result must still be interpreted against the full clinical picture, and no single test should ever replace compassionate clinical judgement.”
— Dr. PRABHAKAR REDDY, DHA License 61713011
⚠️ Medication Safety: Do not discontinue any prescribed medication (e.g., antiepileptics, growth hormones) without consulting your supervising physician.
Patient Safety – Exclusion Criteria & ER Red Flags
- Exclusion: Active bleeding disorder (e.g., haemophilia A) that contraindicates venipuncture; recent bone marrow transplant (<4 weeks) may invalidate DNA source – contact us for cheek swab alternative.
- Red Flag – Seek Emergency Care: If post‑collection you experience severe bleeding that does not stop with pressure, rapid swelling at the draw site, or signs of infection (redness, warmth, pus), go to the nearest ER.
- Minors: UAE Federal Decree-Law No. 41 of 2024, Art. 87 and CDS Law 2026 require both legal guardians’ informed consent for genetic testing of children under 18.
Patient FAQ & Clinical Guidance
1. What is the HDAC4 gene and why is this test important?
This test detects mutations in HDAC4 that cause brachydactyly mental retardation syndrome, a rare genetic condition leading to limb and cognitive abnormalities, confirming diagnosis and guiding clinical management. Without molecular testing, the syndrome can be confused with other short‑stature dysmorphology conditions, delaying targeted developmental support.
يكشف هذا التحليل الطفرات في جين HDAC4 المسببة لمتلازمة قصر الأصابع والتخلف العقلي، مما يؤكد التشخيص ويوجه خطة الرعاية الطبية المتخصصة.
2. How is the sample collected and is it painful?
A simple blood draw or a drop of blood on an FTA card is collected by a trained phlebotomist during a home visit, causing only momentary mild discomfort. Our specialist will visit you between 8 AM and 11 PM; for infants, a heel‑prick FTA card may be used to minimise stress.
يتم جمع العينة في المنزل عبر سحب بسيط للدم أو بطاقة FTA، ولا يستغرق الأمر سوى وخزة بسيطة لا تسبب ألماً يُذكر.
3. How long do results take and how will I understand them?
Results are released within 3 to 4 weeks and include a genetic counselling session by a DHA-licensed geneticist to interpret findings accurately. The report details the specific mutation, its inheritance pattern, and clinical recommendations; we also facilitate a tele‑consult to answer any remaining questions.
تصدر النتائج خلال 3 إلى 4 أسابيع مصحوبة بجلسة استشارة وراثية مع أخصائي معتمد من هيئة الصحة بدبي لشرح النتائج وتوجيه الخطوات التالية.
This is routinely ordered by Pediatricians, Clinical Geneticists, and Pediatric Neurologists registered with DHA / MOHAP. Medical researchers and PhD scientists may also use it for validated cohort studies.
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التحقق من التغطية التأمينية
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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.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians