Test Price
2,800 AED✅ Home Collection Available
POMK Gene (Muscle-Eye-Brain Disease) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing.
- Premium Logistics: Hospital-Grade Home Collection with Temperature-Controlled Cold Chain & VIP Mobile Phlebotomy (available daily 8 AM to 11 PM).
- Clinical Guidance: Post-Test Telephonic Consultation with a DHA-Licensed Geneticist.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The POMK Gene (Muscle-Eye-Brain Disease) Genetic Test is a high-depth next-generation sequencing (NGS) test that analyzes the entire coding region and splice sites of the POMK gene. It detects pathogenic variants associated with congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (muscle-eye-brain disease), enabling accurate diagnosis, prognosis, and family planning. The test is performed on a peripheral blood sample and has a turnaround time of 3 to 4 weeks.
| Feature | Our Test (Exact POMK NGS) | Closest Alternative (Exome Sequencing) |
|---|---|---|
| Precision / Method | High-depth NGS targeting full POMK coding region and splice sites | Whole exome sequencing, lower per-gene coverage |
| Turnaround Time | 3 to 4 Weeks | 8–12 Weeks typical |
| Diagnostic Yield | >99% sensitivity for point mutations and small indels in POMK | ~85% sensitivity for the same gene; often requires reflex single-gene testing |
| Genetic Counseling Integration | Mandatory pre-test counseling and pedigree analysis included | Optional, often not standard |
Physician Insight & Safety Protocols
Clinical Note from Lina Osama Zaki Quteineh, DHA License 9294403 (Consultant Medical Genetics): As a medical geneticist, I recognize the profound impact a genetic diagnosis can have on families. The POMK test result must be carefully correlated with clinical, imaging, and neuro-ophthalmological findings to avoid unnecessary alarm. I strongly advise all patients to engage in genetic counseling before and after the test to ensure informed decision-making and appropriate management.
General Safety Advisory
This test is for diagnostic purposes only. Do not discontinue any prescribed medication without consulting your doctor. Adjustments to anti-epileptics, muscle relaxants, or any chronic therapy must be directed by a physician. Abrupt cessation can lead to serious clinical deterioration.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Recent blood transfusion (<2 weeks), active hematologic malignancy affecting DNA quality, or inability to provide informed consent without a legal guardian.
- Red Flags for Emergency Care: Sudden severe headache, acute vision loss, new-onset seizures, or loss of consciousness require immediate ER evaluation, not routine genetic testing.
- This test is not intended for emergency diagnosis; results do not replace urgent neurological assessment.
Patient FAQ & Clinical Guidance
1. What exactly does the POMK gene test detect?
The test detects mutations causing muscle-eye-brain disease, a severe congenital muscular dystrophy with brain and eye malformations. It sequences the entire coding region of the POMK gene to identify pathogenic variants responsible for dystroglycanopathy type A1, guiding accurate diagnosis, prognosis, and family planning.
2. How should I prepare for the sample collection?
No fasting is required. You must provide a detailed clinical history and consent to genetic counseling. Our team will arrange a home visit with a certified phlebotomist. A genetic counseling session is mandatory to draw a pedigree chart of affected family members, which enriches interpretation.
3. How long does it take to get results, and who explains them?
Results are ready in 3 to 4 weeks. A DHA-licensed geneticist will contact you for a telephonic consultation to interpret the findings, discuss implications for treatment and family screening, and answer all your questions.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Security: DNA Labs UAE strictly 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 encrypted and stored securely. Patient consent is obtained in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability. Your privacy and data security are our highest priorities.
Clinical & Logistical Metadata
| Test Name | POMK Gene (Muscle-Eye-Brain Disease) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral Blood) |
| Methodology Used | Next Generation Sequencing (NGS) |
| ICD-10-CM Code | G71.0 |
| LOINC Code | 91036-9 |
| DHA Facility License & Laboratory Address | License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE (DNA Labs UAE) |
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