Test Price
2,800 AED✅ Home Collection Available
PCNT Gene Microcephalic Osteodysplastic Primordial Dwarfism Type 2 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing (Cert: INT/EGQ/2509DA/3139)
99.9% Diagnostic Sensitivity via ISO Accredited Processing.
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection — Available daily from 8 AM to 11 PM.
Telephonic Post-Test Clinical Guidance in result interpretation.
Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This Next-Generation Sequencing test analyzes the entire PCNT gene to provide definitive molecular confirmation of Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD II), a rare autosomal recessive disorder characterized by severe intrauterine and postnatal growth restriction, microcephaly, and distinct skeletal abnormalities.
MOPD II results from biallelic pathogenic variants in the PCNT gene, which encodes pericentrin, a protein essential for centrosome function and cell division. Accurate genetic diagnosis enables tailored multidisciplinary surveillance and informed family planning.
| Feature | Our Test (NGS) | Closest Alternative (Sanger) |
|---|---|---|
| Precision | Full gene sequencing, >99.9% analytical sensitivity | Targeted regions only, ~99.5% |
| Method | Next-Generation Sequencing with bioinformatics | Sanger sequencing |
| Speed | 3–4 Weeks | 4–6 Weeks |
| Turnaround Time | Expedited reporting available | Standard |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403 notes: “PCNT gene sequencing provides definitive molecular confirmation for MOPD II, enabling tailored surveillance and informed family counseling. Results should always be interpreted within the complete clinical context and pedigree structure. Continue all current care plans until discussed directly with your specialist.”
Safety Advisory
Maintain all prescribed therapies unless explicitly adjusted by your managing physician. Genetic test results complement but do not replace ongoing clinical monitoring or medication regimens.
Clinical Exclusions & Emergency Indicators
- Unverified clinical indication for PCNT testing
- Insufficient or haemolysed blood sample
- Inability to provide positive identification
- Severe developmental regression or acute neurological symptoms
- Unexplained seizures or sudden loss of consciousness
- Signs of severe infection in a child with known dysmorphic features
Patient FAQ & Clinical Guidance
1. What is the PCNT gene test used for?
It detects PCNT gene mutations responsible for Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD II). A definitive result clarifies the diagnosis and guides multidisciplinary care.
2. How is the sample collected?
A simple blood draw or buccal swab collected by our certified phlebotomist at your home or clinic. We use an ISO-certified cold chain to preserve DNA integrity from collection to laboratory.
3. What does a positive result mean?
A positive result confirms a PCNT mutation, indicating a diagnosis of MOPD II and need for genetic counseling. It also prompts surveillance for associated complications and family testing.
4. Who should consider this genetic test?
Individuals with clinical features suggestive of MOPD II, including severe pre- and postnatal growth failure, microcephaly, and skeletal dysplasia. Also recommended for families with a known PCNT mutation and for reproductive risk assessment.
5. How long does it take to receive results?
Standard turnaround time is 3–4 weeks from sample receipt. Expedited reporting is available upon request for urgent clinical decision-making.
6. Is genetic counseling included?
Yes, post-test telephonic genetic counseling is provided to discuss results, recurrence risk, and family implications. A pedigree analysis and clinical history review are recommended prior to testing.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governs all patient data processing and storage.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulates health data exchange and cybersecurity.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – establishes patient consent and clinical safety standards.
- ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) – quality management system for diagnostic services.
- DHA Facility License Number 1143 – accredited laboratory operating in Dubai Healthcare City.
Clinical & Logistical Metadata
| Test Name | PCNT Gene Microcephalic Osteodysplastic Primordial Dwarfism Type 2 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood or Buccal Swab |
| Methodology Used | Next-Generation Sequencing (NGS) with Bioinformatics Analysis |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 92809-0 |
| DHA Facility License & Laboratory Address | DHA Facility License Number 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians