Test Price
2,800 AEDโ Home Collection Available
CEP152 Gene Seckel Syndrome Type 5 Genetic Test in UAE | 2800 AED | DHA Licensed Lab #1143
Executive Summary & Core Clinical Metrics
Test Overview & Molecular Methodology
The CEP152 Gene Seckel Syndrome Type 5 Genetic Test is a targeted next-generation sequencing (NGS) assay that evaluates the full coding sequence and splice sites of the CEP152 gene. This single-gene test provides a definitive molecular diagnosis for individuals presenting with clinical features of Seckel syndrome type 5, including severe intrauterine and postnatal growth retardation, microcephaly, and characteristic dysmorphic features. The assay achieves 99.9% sensitivity for point mutations and small insertions or deletions, enabling precise medical management and informed family planning. Testing is conducted at our DHA-licensed laboratory in Dubai Healthcare City.
| Feature | Our Test (CEP152 NGS) | Closest Alternative (WES/WGS) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity for CEP152 point mutations & small indels | Broader coverage but may miss deep intronic or regulatory variants |
| Methodology | NGS with Illuminaยฎ platform, ACMG variant interpretation | Whole Exome / Genome Sequencing; longer bioinformatics pipeline |
| Turnaround Time | 3 โ 4 weeks | 6 โ 12 weeks typical |
| Cost (AED) | 2,800 | 5,000 โ 15,000+ |
Physician Insight & Safety Protocols
โAs a Consultant in Medical Genetics, I emphasize that the CEP152 genetic test provides a definitive molecular diagnosis for Seckel syndrome type 5. However, clinical correlation with growth parameters, dysmorphology evaluation, and neurodevelopmental history is essential. A positive result confirms the genetic etiology, yet the comprehensive management of primordial dwarfism requires a multidisciplinary team approach. Never adjust a patient's treatment or growth hormone therapy based solely on a laboratory result.โ
โ Lina Osama Zaki Quteineh (DHA: 9294403), Consultant Medical Genetics
Advisory Notice & Medication Safety
โ ๏ธ Medication Warning
Do not discontinue prescribed medication without consulting your doctor. Genetic results do not replace ongoing clinical management of growth, endocrine, or neurological complications.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Active bleeding disorder, severe anaemia, or inability to provide the required sample volume (blood or FTA card).
- Exclusion: Acute febrile illness or systemic infection within 48 hours โ reschedule collection.
- Emergency: If the patient experiences sudden neurological deterioration, intractable seizures, or signs of respiratory distress, seek immediate hospital care regardless of test status.
- Paediatric Specific: Home collection for minors (under 18) requires legal guardian presence and valid Emirates ID, in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. What is the CEP152 Gene Seckel Syndrome Type 5 Genetic Test?
This test is a targeted next-generation sequencing (NGS) analysis designed to detect pathogenic variants in the CEP152 gene. It is the most definitive molecular confirmation for patients presenting with proportionate short stature, severe microcephaly, and characteristic facies associated with Seckel syndrome type 5. The assay follows 2025 ACMG guidelines and is performed in a DHA-licensed facility under the supervision of a Consultant Medical Geneticist.
2. How is the sample collected, and what is the turnaround time?
A trained mobile phlebotomist visits your location under our VIP Home Collection service (8 AM โ 11 PM, all Emirates) to collect a small blood sample, or you can submit an extracted DNA specimen. Samples are transported under ISO-certified cold-chain protocols to our central lab. Sequencing and data analysis require approximately three to four weeks; a preliminary report may be available earlier for urgent cases. All reports are reviewed by a clinical geneticist before release.
3. Does health insurance cover this genetic test in the UAE?
Most UAE insurance plans cover diagnostic genetic testing for suspected Seckel syndrome with prior approval. Coverage depends on the specific policy and clinical necessity. Our billing team verifies benefits directly with insurers such as Daman, Thiqa, and ADNIC. For self-pay patients, the cost is 2,800 AED inclusive of counselling and report interpretation. Contact +971 54 548 8731 via WhatsApp to receive a verification within one working day.
UAE Regulatory & Data Privacy Adherence
Your Data is Protected Under UAE Federal Law
DNA Labs UAE strictly adheres to 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. All genetic data is encrypted, access-restricted, and processed solely for diagnostic purposes under the supervision of licensed medical geneticists. Your results are confidential and cannot be shared without your explicit written consent.
Clinical & Logistical Metadata
| Test Name | CEP152 Gene Seckel Syndrome Type 5 Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) & Sanger Confirmation |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 104207-2 |
| DHA Facility License & Address | DNA Labs UAE | License #1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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