Test Price
2,800 AED✅ Home Collection Available
CEP135 Gene Sequencing for Autosomal Recessive Primary Microcephaly Type 8 (MCPH8) – 2800 AED
Executive Summary & Core Metrics
- ✓ 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing with targeted next-generation sequencing covering 100% of CEP135 coding exons.
- ✓ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – Available daily from 8 AM to 11 PM for standard blood or buccal swab specimens.
- ✓ Post-Test Telephonic Clinical Guidance by a Consultant Medical Geneticist for comprehensive result interpretation and recurrence risk counseling.
- ✓ Direct Insurance Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This targeted next-generation sequencing test analyzes the entire CEP135 gene to identify pathogenic variants causing autosomal recessive primary microcephaly type 8, a congenital disorder characterized by reduced head circumference, mild to moderate intellectual disability, and distinct facial dysmorphisms. Our dedicated approach delivers superior analytical sensitivity with a clinically focused report within 3–4 weeks, optimized for pediatric and neonatal neurology practice.
| Feature | CEP135 Gene Sequencing (Our Test) | Whole Exome Sequencing (WES) |
|---|---|---|
| Precision | 100% coverage of CEP135 coding exons ±10 bp; dedicated CNV detection | Genome‑wide analysis; may miss deep intronic or low‑coverage regions in CEP135 |
| Methodology | Targeted NGS with in‑house validated bioinformatic pipeline | Broad NGS requiring secondary confirmation for single‑gene disorders |
| Turnaround Time | 3–4 Weeks | 8–12 Weeks |
| Interpretation | Clinically focused report with MCPH8‑specific variant classification | Incidental findings possible; requires extensive multidisciplinary review |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
“As a consultant medical geneticist, I deeply appreciate the anxiety families face when a diagnosis of microcephaly is suspected. This targeted NGS test provides a definitive molecular answer for primary microcephaly type 8, empowering us to offer personalized early intervention, tailored developmental support, and accurate recurrence risk counseling. A positive result confirms the diagnosis, while a negative finding does not rule out other genetic or acquired causes, therefore continued multidisciplinary follow‑up remains essential.”
Clinical Advisory Notice
⚠️ Important Pre-Test Guidance
Genetic test results should be interpreted within the full clinical context and must never be used as the sole basis for altering patient management. Pre-test genetic counseling with informed consent (from legal guardians for minors) is mandatory. A three-generation pedigree must be documented prior to sample collection.
Exclusion & Emergency Criteria
- Exclusion Criteria: This test is not indicated for acute illness screening. Insufficient DNA yield or improperly transported specimens may lead to cancellation.
- Emergency Red Flags: If a child with microcephaly develops new‑onset seizures, lethargy, persistent vomiting, bulging fontanelle, “sunsetting” eyes, or sudden neurological deterioration, proceed immediately to the nearest emergency department.
Patient FAQ & Clinical Guidance
1. What does the CEP135 gene test detect?
This NGS test reads the entire CEP135 gene to identify pathogenic mutations that cause autosomal recessive primary microcephaly type 8, revealing why a child’s head circumference is significantly below normal and guiding individualized developmental support plans.
2. How is the sample collected and what preparation is needed?
A certified phlebotomist visits your home between 8 AM and 11 PM to draw a small blood sample or collect a buccal swab, using a temperature‑controlled transport kit. Before the visit, please have a detailed family history and previous medical reports ready for the genetic counseling session.
3. When will I receive the results and how are they explained?
Results are typically ready in 3 to 4 weeks and are delivered during a telephonic consultation with a consultant medical geneticist, who explains the clinical significance, recurrence risks, and any recommended follow‑up steps in plain language.
4. Is genetic counseling included with this test?
Yes, pre-test and post-test genetic counseling are provided as part of the service. Our consultant medical geneticist guides families through the implications of results, recurrence risks, and long‑term management strategies.
UAE Regulatory & Data Privacy Adherence
Data Protection & Clinical Compliance
- All patient data processing 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.
- Clinical testing safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- This laboratory is ISO 9001:2015 accredited and operates under DHA Facility License 1143.
Clinical & Logistical Metadata
| Test Name | CEP135 Gene Sequencing for Autosomal Recessive Primary Microcephaly Type 8 (MCPH8) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (3–5 mL in EDTA) or Buccal Swab |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) with CNV Detection |
| ICD-10-CM Code | Q02 |
| LOINC Code | 51968-1 |
| DHA Facility License & Laboratory Address | DHA License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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