Test Price
2,800 AED✅ Home Collection Available
PHC1 Gene Microcephaly Autosomal Recessive Type 11 Genetic Test in UAE
Executive Summary & Core Metrics
- Diagnostic Precision: 99.9% sensitivity via ISO 9001:2015 accredited NGS processing, ensuring clinically actionable results.
- Premium Home Collection: VIP mobile phlebotomy & temperature‑controlled cold‑chain collection, 8 AM – 11 PM, across Emirates.
- Clinical Guidance: Complimentary tele‑phonic post‑test interpretation with a DHA‑licensed consultant medical geneticist (Lina Osama Zaki Quteineh, DHA: 9294403).
- Insurance & Payment: Direct Billing Verification via WhatsApp +971 54 548 8731. All prices inclusive and DHA‑compliant.
Test Overview & Methodology
This comprehensive genetic test detects pathogenic mutations in the PHC1 gene responsible for autosomal recessive microcephaly type 11 using advanced Next‑Generation Sequencing (NGS). It provides definitive molecular diagnosis for children presenting with microcephaly, developmental delay, or dysmorphic features, enabling accurate clinical management.
| Parameter | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | Full gene sequencing, high sensitivity for novel variants | ~99% accuracy for targeted point mutations |
| Method | Next‑Generation Sequencing (LC‑MS/MS compatible library prep) | Capillary electrophoresis, single‑amplicon analysis |
| Turnaround | 3–4 weeks (priority processing) | 6–8 weeks |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I recognise the profound impact of a precise genetic diagnosis for families. The PHC1 NGS test provides robust molecular evidence, but results must always be interpreted alongside clinical findings and family history. Do not make any changes to your child’s care plan without direct consultation with your attending physician.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License No. 9294403
Medication Advisory
Always consult your doctor before making any decisions based on genetic test results. Your child’s current treatment plan remains the priority; do not modify or stop any prescribed therapy without explicit medical guidance.
Safety Exclusion & Emergency Red Flags
- Exclusion Criteria: Individuals with active febrile illness or recent blood transfusion (≤ 2 weeks) should postpone collection. Under Federal Decree‑Law No. 4 of 2016 on Medical Liability, valid guardian consent and a genetic counselling note are mandatory for minors.
- ER Red Flags – Seek Immediate Medical Attention If: The patient exhibits acute neurological regression, new‑onset seizure activity, sudden loss of developmental milestones, or signs of increased intracranial pressure (persistent vomiting, lethargy).
Patient FAQ & Clinical Guidance
1. What is the PHC1 gene microcephaly test, and who needs it?
This NGS test identifies PHC1 mutations causing autosomal recessive microcephaly type 11, aiding diagnosis in children with small head circumference, developmental delay, or dysmorphic features. It is recommended for paediatric patients, newborns with suspected genetic microcephaly, and families with a history of the condition.
2. How is the sample collected, and is the process child‑friendly?
A gentle blood draw (one drop on an FTA card or a small venous sample) is performed by our paediatric‑trained phlebotomists during a 30‑minute home visit, using a virtually painless technique. We ensure cold‑chain integrity from collection to the laboratory, maintaining sample viability for precise sequencing.
3. What do my child’s results mean and how do I interpret them?
A positive result confirms the presence of a PHC1 mutation, establishing a molecular diagnosis of microcephaly type 11, while a negative result does not rule out other genetic or environmental causes. You will receive a tele‑consultation with a DHA‑licensed genetic specialist who will explain the clinical significance and guide the next steps.
UAE Regulatory & Data Privacy Adherence
- Data Protection: Compliance with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 concerning Use of ICT in Health Fields.
- Medical Liability: Consent and safety governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- ISO Certification: ISO 9001:2015 Certified (INT/EGQ/2509DA/3139).
- Clinical Oversight: All results reviewed and reported under supervision of Lina Osama Zaki Quteineh (DHA 9294403).
Clinical & Logistical Metadata
| Test Name | PHC1 Gene Microcephaly Autosomal Recessive Type 11 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (priority processing) |
| Sample Type / Matrix | Peripheral whole blood (venous or capillary) – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full gene sequencing with LC‑MS/MS compatible library preparation. |
| ICD-10-CM Code | Q02 |
| LOINC Code | 21726-5 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Reporting under supervision of Lina Osama Zaki Quteineh (DHA 9294403) | Operated by DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians