Test Price
2,800 AED✅ Home Collection Available
CEP63 Gene Seckel Syndrome Type 6 Genetic Test – DNA Labs UAE
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) accredited processing.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, 8 AM – 11 PM daily.
Clinical Guidance: Post-Test Clinical Interpretation by a DHA-licensed Consultant Medical Geneticist.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The CEP63 gene Next-Generation Sequencing test is a definitive molecular diagnostic tool for Seckel syndrome type 6, a rare autosomal recessive disorder characterised by severe microcephaly, proportionate short stature, and distinctive craniofacial dysmorphism. Biallelic pathogenic variants in the CEP63 gene disrupt centriole duplication, leading to the clinical phenotype. This assay provides full gene coverage with single-nucleotide variant detection >99.9%.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | Single‑nucleotide variant detection >99.9% | ~99.0%, may miss large rearrangements |
| Method | Massively parallel NGS – full gene coverage | Capillary Sanger sequencing – targeted exons only |
| Turnaround | 3 to 4 Weeks | 4 to 6 Weeks |
Sample requirement: Whole blood (EDTA tube), previously extracted DNA, or dried blood spot on FTA card. Pre-test genetic counselling is mandatory.
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403):
“Receiving a genetic diagnosis for your child can feel overwhelming – please know that this result is only one piece of a larger clinical picture. I always correlate these findings with physical examinations, developmental milestones, and detailed family history. Our multi‑disciplinary team stands ready to guide your family through every next step with compassion and clinical precision.”
Safety & Medication Advisory
Do not discontinue or adjust any prescribed medication without direct consultation with your managing physician. This test is for diagnostic insight only and must never replace acute medical care.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients unable to provide the required blood or DNA sample. This test is not intended for preconception carrier screening without prior genetic counselling.
- Emergency Red Flags: If the patient (especially a child) develops seizures, acute respiratory distress, feeding difficulties, or signs of increased intracranial pressure, seek immediate emergency care – do not await genetic test results.
Patient FAQ & Clinical Guidance
1. What is the CEP63 gene and how does it cause Seckel syndrome type 6?
The CEP63 gene provides instructions for making a protein essential for centriole duplication; biallelic pathogenic variants cause Seckel syndrome type 6, a rare autosomal recessive disorder characterised by severe microcephaly, proportionate short stature, and distinctive craniofacial dysmorphism.
2. How is the test performed and what sample is needed?
A small venous blood sample (EDTA tube), previously extracted DNA, or a dried blood spot on an FTA card is collected; the DNA is then enriched for the CEP63 gene and sequenced using Next‑Generation Sequencing to detect single nucleotide variants and small insertions/deletions.
3. What does a positive result mean for my child and family?
A positive result confirms a molecular diagnosis of Seckel syndrome type 6, which allows for tailored surveillance of growth, neurodevelopmental support, and informed genetic counselling regarding recurrence risk for future pregnancies in the family.
UAE Regulatory & Data Privacy Adherence
This genetic testing service strictly adheres to the Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all patient genetic data, and complies with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for secure digital health data handling. Clinical safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. All processing is performed in an ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) accredited facility under DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | CEP63 Gene Seckel Syndrome Type 6 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Dried Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Coverage |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 81261-6 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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