Also known as: CFEOM2 Genetic Test, PHOX2A Sequencing
Test Price
2,800 AEDโ Home Collection Available
๐ Results in 3โ4 Weeks (21โ28 business days)
PHOX2A Gene Congenital Fibrosis of Extraocular Muscles Type 2 Genetic Test in UAE
Executive Summary & Core Metrics
- โDiagnostic Precision: 99.9% analytical sensitivity and specificity through ISO 9001:2015 accredited NGS workflow, delivering a definitive molecular diagnosis for CFEOM2.
- โPremium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- โClinical Integration: Mandatory pre- and post-test telephonic clinical guidance by DHA-licensed physicians, ensuring actionable result interpretation.
- โInsurance & Payment: Direct billing verification and pre-approval assistance via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This single-gene sequencing test targets the PHOX2A gene to confirm Congenital Fibrosis of Extraocular Muscles Type 2 (CFEOM2), a rare autosomal dominant disorder that disrupts eye movement from birth. Delivered on a Next-Generation Sequencing (NGS) platform, the assay identifies pathogenic variants with exceptional depth and accuracy, supporting paediatric, ophthalmology, and genetics-led care pathways.
| Metric | Our PHOX2A NGS Test | Closest Alternative (Targeted Sanger) |
|---|---|---|
| Precision | 99.9% sensitivity for single nucleotide variants & indels | ~95% per amplicon; misses deep intronic variants |
| Method | Next-Generation Sequencing (Illumina) | Sanger Sequencing of coding exons only |
| Turnaround | 3โ4 Weeks with comprehensive report | 2โ3 Weeks; limited variant annotation |
Physician Insight & Safety Protocols
โA positive PHOX2A result provides critical molecular clarity for families navigating a rare congenital eye movement disorder, but final diagnosis must always integrate specialist ophthalmologic and neurologic assessments. As your consulting physician, I strongly recommend pre-test genetic counselling to set realistic expectations, and I underscore that this test does not replace ongoing clinical care. Never alter or discontinue any prescribed medication without direct consultation with your treating physician.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
โ Patient Safety: Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients unable to provide valid informed consent or those with active systemic infection contraindicating blood draw.
- Exclusion: Home collection is deferred if the patient exhibits acute febrile illness or localised skin infection at the venipuncture site.
- Red Flag: Seek emergency care immediately if you experience sudden loss of vision, explosive double vision, severe eye pain, or new-onset neurological symptoms such as facial weakness.
- Red Flag: In infants, any acute change in ocular alignment, pupillary abnormality, or lethargy requires urgent paediatric evaluation.
Patient FAQ & Clinical Guidance
1. What is the purpose of the PHOX2A gene test?
This test detects pathogenic mutations in the PHOX2A gene responsible for congenital fibrosis of extraocular muscles typeโฏ2, enabling early diagnosis and family risk assessment.
2. How is the sample collected and what is the turnaround time?
A single blood draw (or DNA extracted from blood) is sequenced by NGS, with a definitive report issued within 3 to 4 weeks. VIP Mobile Phlebotomy is available for home collection daily from 8 AM to 11 PM.
3. Is this genetic test covered by insurance in the UAE?
Most UAE insurance plans cover rare congenital disorder testing when medically necessary; we provide free billing verification via WhatsApp at +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
This service 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 for genetic data protection. Clinical safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic counselling and reporting follow DHA and MOHAP standards under facility license 1143 and ISO 9001:2015 certification.
Clinical & Logistical Metadata
| Test Name | PHOX2A Gene Congenital Fibrosis of Extraocular Muscles Type 2 (CFEOM2) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks (21โ28 business days) |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or FTA card blood spot |
| Methodology Used | Next-Generation Sequencing (NGS) โ Illumina platform, full gene sequencing |
| ICD-10-CM Code | H49.81 (Congenital fibrosis of extraocular muscles) |
| LOINC Code | 21600-1 (PHOX2A gene mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
Preparation Required
["No specific fasting required", "Inform lab of any medications being taken"]
Medically Reviewed by Dr. Lina Osama Zaki Quteineh
All content reviewed by qualified professionals for accuracy.
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians