Test Price
2,800 AEDโ Home Collection Available
FKBP14 Gene Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9 Diagnostic Sensitivity via ISO Accredited Processing (ISO 9001:2015).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation. Direct Billing Verification via WhatsApp: +971 54 548 8731.
- Lead Consultant Oversight: Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403).
Test Overview & Methodology
The FKBP14 gene test utilises Next Generation Sequencing (NGS) to confirm clinical suspicion of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. This analysis guides clinical management, surveillance planning, and enables family genetic counselling for this rare autosomal recessive disorder.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9 analytical sensitivity for single nucleotide and small indel variants | Approximately 95 for targeted regions; higher missed rate for novel variants |
| Method | Next Generation Sequencing (Illumina NovaSeq) | Sanger capillary electrophoresis |
| Turnaround Time | 3 to 4 Weeks | 6 to 8 Weeks (manual analysis) |
| Comprehensive Coverage | Full gene +/- 20 bp intronic flanks, CNV detection | Limited to selected exons; no CNV |
Physician Insight & Safety Protocols
โThis test provides definitive genetic clarity for a complex multisystem disorder, but a positive result must always be correlated with clinical presentation. I strongly advise pre- and post-test genetic counselling to fully inform patients about implications for disease progression, family planning, and surveillance for hearing loss and spinal deformities. Genetic information is a lifelong assetโuse it wisely.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice on Medication Continuity
Do not discontinue any prescribed medication, including analgesics or muscle relaxants, without consulting your physician. Abrupt cessation may worsen symptoms. Always coordinate management changes with your treating specialist.
Critical Exclusion Criteria & Safety Guidelines
- Exclusion: Testing is not indicated in the absence of clinical features including progressive kyphoscoliosis, myopathy, hearing loss, or a family history of FKBP14-related Ehlers-Danlos syndrome. Not suitable for prenatal diagnosis without prior genetic confirmation in a parent.
- Sample Rejection: Improperly collected or hemolysed blood, insufficient DNA on FTA card, unlabelled sample, or missing consent documentation.
- Emergency Red Flags: Seek immediate medical care if you experience sudden severe back pain, acute neurological deficits, shortness of breath, or signs of aortic dissection (though rare in this subtype). Do not wait for genetic results.
- Minor Consent: Genetic testing for minors requires informed consent from a legal guardian as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. What is the FKBP14 gene test and what conditions does it detect?
The FKBP14 gene NGS test identifies DNA mutations responsible for Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. This rare autosomal recessive disorder leads to severe curvature of the spine, muscle weakness, and sensorineural deafness from adolescence onward. Confirmatory testing allows early orthopaedic intervention and informed genetic counselling.
2. How long does it take to receive the FKBP14 genetic test results?
Standard turnaround time for the FKBP14 NGS test is 3 to 4 weeks from sample receipt to physician-ready report. Expedited options are available for urgent clinical scenarios upon request. The process includes DNA extraction, library preparation, sequencing, bioinformatics analysis, and clinical interpretation by board-certified molecular geneticists.
3. Will my insurance cover this genetic test in the UAE?
Coverage depends on your insurance plan. Our team provides direct billing verification via WhatsApp at +971 54 548 8731 before any charge is incurred. Many UAE insurers require prior approval for genetic tests; we will contact your insurer with a DHA-compliant request and notify you of any out-of-pocket costs. You retain full control.
UAE Regulatory & Data Privacy Adherence
All genetic testing and patient data handling comply fully 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. Clinical safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE is a DHA-licensed facility (License No. 1143) operating under the regulatory oversight of the Dubai Health Authority and the UAE Ministry of Health and Prevention.
Clinical & Logistical Metadata
| Test Name | FKBP14 Gene Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or FTA Card Blood Spot |
| Methodology Used | Next Generation Sequencing (NGS) on Illumina NovaSeq |
| ICD-10-CM Code | Q79.6, G71.8, H90.3, Z15.89 |
| LOINC Code | 101554-3 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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