Test Price
2,800 AED✅ Home Collection Available
CENPE Gene Autosomal Recessive Primary Microcephaly Type 13 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity via ISO 9001:2015 certified NGS processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Post-test telephonic interpretation by Consultant Medical Genetics.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The CENPE Genetic Test definitively diagnoses autosomal recessive primary microcephaly type 13 (MCPH13) through comprehensive coding region sequencing using next-generation sequencing (NGS). Compared with conventional single-gene Sanger sequencing, our NGS platform delivers faster turnaround, higher sensitivity, and simultaneous detection of deep intronic variants.
| Feature | Our Test (NGS) | Closest Alternative (Sanger) |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity; full exon & splice site coverage | ~95% for targeted regions only; may miss novel variants |
| Method | NGS on Illumina platform with orthogonal Sanger confirmation | Single-gene Sanger (sequential exon amplification) |
| Turnaround Time | 3–4 weeks | 6–8 weeks (multiple rounds) |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics with expertise in neurogenetic disorders, I emphasise that a positive CENPE mutation confirms the genetic aetiology of microcephaly but must always be correlated with clinical and imaging findings. Genetic counselling is imperative for recurrence risk estimation and reproductive planning." – Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA: 9294403)
Safety Advisory
Do not discontinue any prescribed medication without consulting your treating physician. If your child develops acute neurological deterioration, seizures, lethargy, respiratory distress, or feeding difficulties, seek immediate medical attention before proceeding with elective genetic testing.
Safety Exclusion Criteria & ER Red Flags
- Infants with acute neurological deterioration or seizures require emergency evaluation prior to elective genetic testing.
- Home collection is contraindicated in patients with known severe coagulation disorders; hospital-based phlebotomy must be arranged.
- If your child develops lethargy, respiratory distress, or feeding difficulties, seek immediate medical attention.
Patient FAQ & Clinical Guidance
1. How accurate is the CENPE gene test for confirming microcephaly type 13?
The NGS assay achieves 99.9% diagnostic sensitivity by sequencing the entire CENPE coding region, detecting point mutations, small indels, and splice-site variants with high fidelity. All pathogenic findings are verified through orthogonal Sanger sequencing before reporting.
2. Is fasting or special preparation required before sample collection?
No fasting is necessary; a simple blood draw can be collected at home by our licensed phlebotomists through VIP Mobile Phlebotomy service. Please keep the child hydrated and avoid applying any creams on the venipuncture site.
3. Will insurance cover the cost of genetic counselling and testing?
Most UAE policies include coverage for diagnostic genetic tests when medically indicated and pre-authorised. Our team verifies direct billing eligibility via WhatsApp (+971545488731) before collection, ensuring a smooth claims process.
4. What is the turnaround time for results?
Results are typically available within 3 to 4 weeks from sample receipt at the laboratory. A detailed clinical report including interpretation by our Consultant Medical Genetics will be provided.
UAE Regulatory & Data Privacy Adherence
This service 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 processed within a UAE-licensed facility under strict confidentiality protocols. Clinical testing safety and patient consent comply with Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | CENPE Gene Autosomal Recessive Primary Microcephaly Type 13 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA tube) or FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina platform with orthogonal Sanger confirmation |
| ICD-10-CM Code | Q02 |
| LOINC Code | 81319-2 (Sequence analysis of targeted region) |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – operated by DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians