Test Price
2,800 AEDโ Home Collection Available
KIF21A Gene Sequencing for Congenital Fibrosis of Extraocular Muscles Type 1 (CFEOM1) โ Dubai, UAE
Executive Summary & Core Metrics
The KIF21A gene sequencing test delivers 99.9% diagnostic sensitivity through ISO 15189 accredited Next-Generation Sequencing (NGS) technology. This molecular assay detects pathogenic variants responsible for congenital fibrosis of the extraocular muscles type 1, enabling definitive diagnosis, surgical planning, and informed genetic counselling. Results are confirmed by Sanger sequencing to ensure absolute accuracy for clinical decision-making.
- Accuracy: 99.9% diagnostic sensitivity with ISO accredited NGS processing and Sanger confirmation.
- Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM โ 11 PM).
- Clinical Support: Telephonic post-test guidance from Consultant Medical Genetics.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
- Price: 2,800 AED โ includes full gene sequencing, variant interpretation, and clinical report.
Test Overview & Methodology
The KIF21A gene encodes a kinesin motor protein critical for axonal guidance during oculomotor nerve development. Pathogenic variants in KIF21A disrupt innervation of the extraocular muscles, producing the classic CFEOM1 phenotype: bilateral ptosis, infraducted resting eye position, and severely restricted vertical and horizontal gaze. Our NGS assay provides comprehensive coverage of all coding exons, splice sites, and flanking intronic regions, detecting single nucleotide variants, small insertions and deletions, and copy number alterations. Each pathogenic call is independently validated using bidirectional Sanger sequencing, ensuring 99.9% accuracy before release.
| Feature | Our NGS Test | Closest Alternative (SingleโGene Sanger) |
|---|---|---|
| Precision | Full gene coverage with MLโbased variant interpretation | Limited to selected exons |
| Method | NGS (Next-Generation Sequencing) + Sanger confirmation | Capillary sequencing of individual amplicons |
| Speed | 3โ4 weeks with priority reporting available | 6โ8 weeks typical |
| Sample | Blood, Extracted DNA, or FTA Card | Blood only |
Physician Insight & Safety Protocols
Ms. Lina Osama Zaki Quteineh (DHA Registration ID: 9294403), Consultant Medical Genetics, shares: "Congenital fibrosis of the extraocular muscles type 1 is a rare disorder that requires precise molecular confirmation. This KIF21A NGS test provides families with a definitive genetic diagnosis, enabling tailored surgical interventions and accurate recurrence risk assessment. I personally review each variant classification and ensure the clinical report includes clear, actionable guidance for the managing ophthalmologist and genetic counsellor. Our goal is to translate genomic data into meaningful clinical outcomes for every patient."
Advisory: Medication & Clinical Precautions
Do not alter or discontinue any prescribed medications without direct consultation with your treating physician. This includes anti-inflammatory eye drops, systemic corticosteroids, or any therapy prescribed for ocular motility disorders. Genetic testing outcomes may influence future treatment planning but should not prompt immediate medication changes. Always consult your specialist before adjusting any therapeutic regimen.
Exclusion Criteria & Emergency Red Flags
This test is not intended for emergency or acute diagnostic situations. Mandatory pre-test genetic counselling is required prior to sample collection. Do not proceed with collection if the patient presents with acute ocular trauma, active orbital infection, or uncontrolled seizure activity. Patients or caregivers should seek immediate emergency care if any of the following develop: sudden onset diplopia, severe headache accompanied by vomiting, loss of consciousness, or acute vision loss in one or both eyes.
Patient FAQ & Clinical Guidance
1. What is the KIF21A gene and how does it cause CFEOM1?
The KIF21A gene provides instructions for producing a kinesin motor protein essential for normal axon guidance during development of the oculomotor nerve. Pathogenic variants disrupt this process, leading to abnormal innervation of the extraocular muscles. This results in congenital, non-progressive restriction of eye movement, typically with both eyes fixed in a downward gaze position, bilateral ptosis, and an inability to elevate the eyes above the horizontal midline. Even a single heterozygous pathogenic variant can produce the full CFEOM1 phenotype. Our test identifies mutations across the entire coding region, splice junctions, and conserved regulatory elements, providing a definitive molecular diagnosis when clinical features are present.
2. What sample is required and how is the sequencing performed?
We accept a standard venous blood draw (3โ5 mL in EDTA tube), a painless finger-prick sample on an FTA card, or extracted DNA of suitable quality. The sample is processed using high-coverage Next-Generation Sequencing on an Illumina platform, achieving 100ร mean depth across all KIF21A coding exons. Bioinformatic analysis identifies single nucleotide variants, small insertions and deletions, and copy number changes. All pathogenic and likely pathogenic calls are independently confirmed by Sanger sequencing to eliminate false positives. The entire process is performed in our CAP-accredited and ISO 15189 certified laboratory in Dubai Healthcare City.
3. How should I interpret a positive or negative result for my child?
A positive result (detection of a known or novel pathogenic variant in KIF21A) confirms the diagnosis of CFEOM1, enables accurate recurrence risk counselling for family planning, and may guide the surgical approach for strabismus correction and ptosis repair. A negative result does not completely rule out a genetic cause, as pathogenic variants may exist in other genes such as TUBB3, PHOX2A, or COL25A1, or deep intronic KIF21A variants not captured by standard sequencing. In both scenarios, our Consultant Medical Genetics provides a telephonic consultation to explain the report, coordinate with your paediatric ophthalmologist, and recommend appropriate follow-up testing or referrals as needed.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under the regulatory oversight of the Dubai Health Authority (DHA Facility License No. 1143) and complies fully with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all patient genomic data handling, storage, and sharing. We also adhere to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure electronic health information exchange. Clinical safety and patient consent protocols strictly follow Federal Decree-Law No. 4 of 2016 on Medical Liability, guaranteeing that every genetic test is performed with informed written consent, pre-test counselling documentation, and a transparent results disclosure policy. Our laboratory is CAP accredited and ISO 15189 certified, meeting international standards for medical laboratory quality and competence.
Clinical & Logistical Metadata
| Test Name | KIF21A Gene Sequencing for Congenital Fibrosis of Extraocular Muscles Type 1 (CFEOM1) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 โ 4 Weeks (priority reporting available upon request) |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM โ 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina platform with Sanger confirmation of all pathogenic calls |
| ICD-10-CM Code | H49.81 (Other specified paralytic strabismus) |
| LOINC Code | 94122-4 (KIF21A gene targeted mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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