Test Price
2,800 AED✅ Home Collection Available
DHCR7 Gene (Smith‑Lemli‑Opitz Syndrome) Genetic Test in Dubai | 2,800 AED
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO‑accredited next‑generation sequencing for definitive molecular confirmation of Smith‑Lemli‑Opitz syndrome.
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily from 8 AM to 11 PM across all Emirates.
- ✓ Clinical Guidance: Telephonic post‑test genetic counseling by a DHA‑licensed consultant medical geneticist to support result interpretation and family planning.
- ✓ Insurance: Direct billing verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
This next‑generation sequencing (NGS) test analyzes the entire DHCR7 gene to identify pathogenic variants causative of Smith‑Lemli‑Opitz syndrome, an autosomal recessive disorder of cholesterol biosynthesis. The assay detects single‑nucleotide variants, small insertions/deletions, and copy‑number variants across all coding exons and flanking intronic regions. It is indicated for diagnostic confirmation in symptomatic individuals, carrier screening in at‑risk families, and prenatal or preimplantation genetic testing. Results are classified according to ACMG/AMP guidelines and confirmed by Sanger sequencing for all reported variants.
| Feature | DHCR7 NGS Test | Alternative Sanger Sequencing |
|---|---|---|
| Methodology | Next‑Generation Sequencing (full gene coverage, CNV detection) | Targeted Sanger (single exon resolution) |
| Analytical Sensitivity | >99.9% | ~95% |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Price (UAE) | 2,800 AED (all‑inclusive) | Variable, often higher for full gene |
Physician Insight & Safety Protocols
This NGS panel provides a definitive molecular diagnosis for Smith‑Lemli‑Opitz syndrome with high accuracy, yet the clinical context remains essential. Pathogenic DHCR7 variants must be interpreted alongside the patient’s physical findings, cholesterol precursors, and family history. Early diagnosis enables cholesterol supplementation, dietary management, and multidisciplinary surveillance that can significantly improve neurodevelopmental outcomes. Our genetics team is available to walk you through every step of the testing journey.
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Pre‑Test Genetic Counseling Requirement
All individuals undergoing DHCR7 genetic testing must complete a pre‑test genetic counseling session with a qualified genetics professional. This ensures informed consent regarding the scope of results, implications for family members, and the possibility of identifying variants of uncertain significance. Counselors are available by appointment via phone or video consultation and will document consent before sample collection proceeds.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Individuals with severe uncorrected coagulopathy; neonates with hemodynamic instability; any patient who declines mandatory pre‑test genetic counseling after detailed discussion.
- Emergency Red Flags: If the patient develops altered mental status, hypoglycemia, hypotension, or vomiting out of proportion to a concurrent illness, seek emergency care immediately. These signs may indicate metabolic decompensation related to the underlying condition rather than the testing procedure.
Patient FAQ & Clinical Guidance
1. What is the DHCR7 gene test used for?
This test confirms or rules out Smith‑Lemli‑Opitz syndrome at the DNA level by identifying disease‑causing mutations in the DHCR7 gene. It is the most accurate method available, detecting over 99% of known pathogenic variants. Results guide cholesterol supplementation therapy, dietary interventions, and recurrence risk counseling for families.
2. How is the sample collected, and can I stay at home?
A small venous blood sample (EDTA tube) or a dried blood spot from a finger prick is sufficient. Our VIP Mobile Phlebotomy service sends a certified phlebotomist to your home across all UAE emirates from 8 AM to 11 PM daily. Samples are transported via temperature‑controlled cold‑chain to our CAP‑accredited genetics laboratory, preserving DNA integrity throughout.
3. What will my results look like, and will I get support?
Your report lists each detected variant with its classification (pathogenic, likely pathogenic, or variant of uncertain significance) following ACMG criteria. A DHA‑licensed consultant medical geneticist will call you to explain the findings, discuss carrier risks for family planning, and outline management options. Our team remains available for follow‑up questions after the consultation.
4. Is this test covered by my health insurance in the UAE?
Many UAE health insurance plans cover genetic testing when ordered by a specialist. We offer direct billing verification for major insurers. Send a photo of your insurance card via WhatsApp to +971 54 548 8731 and our billing team will confirm your eligibility and any copayment before the test is scheduled.
5. How long does it take to get results?
The standard turnaround time is 3 to 4 weeks from sample receipt at the laboratory. This timeline includes DNA extraction, library preparation, sequencing, bioinformatics analysis, variant confirmation by Sanger sequencing where required, and clinical report generation. You will be notified as soon as the report is ready for your telephonic counseling session.
UAE Regulatory & Data Privacy Adherence
- ✓ Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL): Your genetic data is encrypted at rest and in transit, processed solely for diagnostic purposes, and never shared with third parties without explicit written consent. You have the right to access, rectify, or delete your data at any time.
- ✓ Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: All electronic health information systems used in this testing pathway comply with UAE standards for interoperability, security auditing, and breach notification.
- ✓ Federal Decree‑Law No. 4 of 2016 on Medical Liability: Patient safety and informed consent protocols governing sample collection, genetic counseling, and result disclosure adhere to the national medical liability framework.
- ✓ ISO 9001:2015 Certified: Laboratory operations certified under Certificate INT/EGQ/2509DA/3139, ensuring consistent quality and international standards.
Clinical & Logistical Metadata
| Test Name | DHCR7 Gene (Smith‑Lemli‑Opitz Syndrome) Genetic Test |
| Price (AED) | 2,800 AED (All‑Inclusive) |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot |
| Methodology Used | Next‑Generation Sequencing (Full Gene Coverage, CNV Detection) |
| ICD-10-CM Code | E78.72 |
| LOINC Code | 21636-6 |
| DHA Facility License & Address | DHA License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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