Test Price
2,800 AED✅ Home Collection Available
DHCR24 Gene Desmosterolosis Sequencing Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing
✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM)
✓ Clinical Guidance: Telephonic Post-Test Genetic Counselling in Result Interpretation
✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
What is the DHCR24 Gene Desmosterolosis Sequencing Test?
The DHCR24 Gene Desmosterolosis Sequencing Test uses next‑generation sequencing (NGS) to detect pathogenic variants in the DHCR24 gene, confirming a clinical diagnosis of desmosterolosis – a rare, autosomal recessive disorder of cholesterol biosynthesis causing dysmorphic features, intellectual disability, and multi‑organ anomalies. In the UAE, this test delivers definitive molecular confirmation, guiding personalised management and genetic counselling for families.
| Feature | Our UAE Test | Closest Alternative |
|---|---|---|
| Precision | Full gene NGS + Sanger confirmation, >99.9% analytical sensitivity | Single‑exon Sanger only, risk of missing deep intronic variants |
| Method | Illumina® NGS platform, bio‑informatically validated against reference genomes | Conventional PCR‑based fragment analysis |
| Turnaround | 3–4 weeks (DHA‑licensed, ISO 9001:2015) | 6–8 weeks (foreign lab, no local counselling) |
| Added Value | Pre‑ & post‑test genetic counselling, pedigree analysis, direct insurance billing | Report only, no clinical support |
Physician Insight & Safety Protocols
“As a Consultant in Medical Genetics, I understand the diagnostic challenges posed by ultra-rare inborn errors of metabolism like desmosterolosis. The DHCR24 sequencing test offers a definitive molecular diagnosis, guiding targeted management and accurate genetic counselling. However, a negative result does not exclude all genetic disorders, and correlation with clinical, biochemical, and imaging findings is essential.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Reg: 9294403
Advisory: Medication and Safety Precautions
⚠ Do not discontinue any prescribed medication (e.g., cholesterol‑lowering agents, antiepileptics) without consulting your physician. This test does not replace clinical monitoring by a specialist.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria for Sample Collection
- Acute febrile illness or haemodynamic instability – reschedule once stable.
- Recent whole‑blood transfusion (within 2 weeks) – may interfere with germline DNA analysis.
- Inability to provide informed consent (guardian consent required for minors, per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability).
Emergency Red Flags (seek immediate medical attention)
- Unexplained seizures or loss of consciousness – call 998.
- Severe respiratory distress or cyanosis.
- Acute metabolic crisis (vomiting, lethargy, hypoglycaemia).
- Sudden neurological deterioration.
Patient FAQ & Clinical Guidance
1. What is the DHCR24 Gene Desmosterolosis Sequencing Test, and who should consider it?
The DHCR24 gene test detects desmosterolosis‑causing mutations and is indicated for children with dysmorphic features, developmental delay, or a family history of cholesterol biosynthesis disorders. It provides definitive molecular confirmation, guiding diagnosis, management, and genetic counselling.
2. What sample is needed, and how is the test performed?
A single blood draw (3–5 mL EDTA tube), dried blood spot (FTA card), or extracted DNA is accepted. The laboratory performs NGS sequencing followed by Sanger confirmation of identified variants. The entire process is ISO 9001:2015 accredited.
3. How long do results take, and what will they tell me?
Results are ready in 3 to 4 weeks. The report will identify whether a disease‑causing variant is present, assisting in diagnosis, prognosis, and recurrence risk assessment for future family planning.
UAE Regulatory & Data Privacy Adherence
This service fully complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Patient consent and clinical safety follow Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is processed under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) confidentiality protocols. Direct billing agreements with major UAE insurers are verified before collection.
Clinical & Logistical Metadata
| Test Name | DHCR24 Gene Desmosterolosis Sequencing Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), Dried blood spot (FTA card), or Extracted DNA |
| Methodology Used | Next‑Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | E78.8 |
| LOINC Code | 101440-4 |
| 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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