Test Price
2,800 AED✅ Home Collection Available
MSMO1 Gene Microcephaly Genetic Test in UAE | AED 2800
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-accredited NGS processing, validated for all known MSMO1 pathogenic variants.
- Premium Logistics: VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM for standard peripheral blood specimens.
- Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance with a DHA-licensed geneticist to interpret results.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This NGS-based genetic test analyzes the entire coding region of the MSMO1 gene to diagnose autosomal recessive primary microcephaly, congenital cataracts and intellectual disability.
| Feature | Our MSMO1 NGS Test | Closest Alternative (Single‑Gene Sequencing/Panel) |
|---|---|---|
| Precision | Full gene coverage incl. deep intronic and regulatory regions; detects SNVs, indels, and CNVs | May miss deep intronic mutations or large deletions; limited variant detection scope |
| Methodology | Next‑Generation Sequencing (Illumina platform) with Sanger confirmation | Sanger sequencing or targeted gene panel, often without dosage analysis |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks (may require reflex to broader panel) |
Physician Insight & Safety Protocols
"As a DHA-licensed Consultant Medical Genetics specialist, I confirm that identifying pathogenic variants in MSMO1 provides a definitive molecular diagnosis for primary microcephaly with congenital cataracts. This result directs targeted surveillance and enables informed family counseling regarding recurrence risk and reproductive planning. Clinical correlation with dysmorphology assessment and developmental milestones remains essential for comprehensive patient management."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory & Precautions
Clinical Exclusion Criteria & Urgent Warning Signs
- Exclusion criteria: Uncontrolled epilepsy, medically unstable patient (e.g., ongoing sepsis), or inability to provide blood/DNA sample safely.
- ER Red Flags requiring immediate medical attention: New‑onset seizures, acute vision loss, persistent vomiting, severe headache, or bulging fontanelle (signs of raised intracranial pressure).
- Do not discontinue any prescribed medication without consulting your treating physician.
Contraindications for Specimen Collection
- Active infection at venipuncture site.
- Known bleeding disorder or coagulopathy without medical clearance.
- Patient currently on anticoagulant therapy that cannot be temporarily managed per protocol.
Patient FAQ & Clinical Guidance
1. What is the MSMO1 gene and how does it relate to microcephaly?
A: The MSMO1 gene encodes an enzyme critical for cholesterol biosynthesis; biallelic loss-of-function mutations cause primary microcephaly, congenital cataracts, and intellectual disability.
2. Who should consider this genetic test?
A: Any child with unexplained microcephaly, especially when accompanied by congenital cataracts or developmental delay, should be evaluated for MSMO1 mutations to establish an accurate molecular diagnosis and guide family counseling.
3. How is the sample collected and is home collection available?
A: A standard peripheral blood sample is collected via venipuncture. Our VIP Mobile Phlebotomy service with temperature-controlled cold-chain home collection is available daily from 8 AM to 11 PM for patient convenience.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143 and strictly complies with 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 with explicit patient consent and stored in secure, encrypted systems with restricted access. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring full regulatory compliance across all diagnostic procedures.
Clinical & Logistical Metadata
| Test Name | MSMO1 Gene Microcephaly Genetic Test (NGS) |
| Price (AED) | AED 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood, Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next‑Generation Sequencing (Illumina platform) with Sanger confirmation for variant validation |
| ICD-10-CM Code | Q02, Q12.0 |
| LOINC Code | 21636-5 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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