Test Price
2,800 AED✅ Home Collection Available
HDAC4 Gene Mutation Analysis for Brachydactyly-Mental Retardation Syndrome (NGS) in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
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.
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection: Available daily from 8 AM to 11 PM. 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.
Test Overview & Methodology
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. Molecular diagnostic accuracy enables targeted medical care and early intervention plans.
| Feature | Our Test (DNA Labs UAE – 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 Protocols
“As a clinical geneticist, I witness the profound impact a genetic diagnosis has on families navigating brachydactyly and developmental delays. This NGS test provides precise molecular confirmation of HDAC4 mutations, empowering tailored genetic counselling and early intervention. However, always interpret negative results within the full clinical context; no single assay supersedes comprehensive medical evaluation.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License 9294403
Medication Safety Advisory
Do not discontinue any prescribed medication (e.g., antiepileptics, growth hormones) without consulting your supervising physician. The genetic test result does not alter existing medication regimens without explicit clinical guidance.
Patient Exclusion Criteria & 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: Under UAE Federal Decree-Law No. 4 of 2016 on Medical Liability, both legal guardians’ informed consent is required 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.
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.
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.
UAE Regulatory & Data Privacy Adherence
✅ ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) ⚖️ Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) 🛡️ Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields 🏥 DHA Facility License 1143
Clinical & Logistical Metadata
| Test Name | HDAC4 Gene Mutation Analysis for Brachydactyly-Mental Retardation Syndrome (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole blood, DNA FTA card, or extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 55233-1 |
| DHA Facility License & Laboratory Address | DHA Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Lab: DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians