Test Price
2,800 AED✅ Home Collection Available
FBN1 Gene Geleophysic Dysplasia Type 2 Genetic Test in UAE – 2800 AED | DNA Labs UAE
ISO 15189:2022 Accredited
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity via ISO 15189-accredited Next-Generation Sequencing (NGS) with full FBN1 gene coverage.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across Dubai and the UAE.
- Clinical Guidance: Post-test telephonic result interpretation by a DHA-licensed Consultant Medical Geneticist to ensure actionable insights.
- Insurance & Billing: Direct billing verification available via WhatsApp +971 54 548 8731; accept most major UAE health insurance plans.
Test Overview & Methodology
Geleophysic Dysplasia Type 2 is a rare autosomal dominant connective tissue disorder caused by pathogenic variants in the FBN1 gene. Clinical hallmarks include short stature, joint stiffness, distinctive facial features, and progressive cardiac valvular thickening. This genetic test employs Next-Generation Sequencing (NGS) to interrogate all coding exons and flanking intronic regions of FBN1, with Multiplex Ligation-dependent Probe Amplification (MLPA) backup for detection of large deletions or duplications. The result provides a definitive molecular diagnosis, enabling tailored cardiological surveillance and family cascade testing.
| Feature | DNA Labs UAE – NGS Platform | Conventional Sanger Sequencing |
|---|---|---|
| Analytical Sensitivity | 99.9% across entire FBN1 coding region | ~90% limited to known mutational hotspots |
| Methodology | NGS (Illumina) + MLPA for CNV detection | Sanger sequencing only; no CNV analysis |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Variant Classification | ACMG/AMP 2015 guidelines with ClinVar integration | Manual interpretation, limited database linkage |
Physician Insight & Safety Protocols
“Geleophysic Dysplasia Type 2 requires a multidisciplinary diagnostic approach. As a Consultant Medical Geneticist, I recommend that FBN1 sequencing be interpreted alongside echocardiographic findings, skeletal survey, and clinical dysmorphology assessment. A positive result confirms the diagnosis and guides family screening; a negative result does not exclude the condition—clinical correlation remains paramount. Our NGS platform with MLPA backup ensures the highest detection rate for this rare disorder.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Notice
Do not discontinue, alter, or initiate any prescribed medication—including cardiac therapies—without direct consultation with your treating physician. Genetic test results are intended to inform clinical management, not to replace professional medical advice.
Exclusion Criteria & Emergency Red Flags
- Active febrile illness or systemic infection – defer testing until clinical resolution.
- Recent major surgery or trauma (within 4 weeks) – postpone to avoid confounding stress response.
- Uncontrolled bleeding diathesis – phlebotomy risk must be assessed by a haematologist.
- Emergency warning: If the patient presents with acute cardiac symptoms (chest pain, syncope, dyspnoea) or clinical suspicion of aortic root dilation, seek immediate emergency care. Do not proceed with phlebotomy.
Patient FAQ & Clinical Guidance
1. What sample type is required for the FBN1 genetic test?
We accept peripheral whole blood (3–5 mL in EDTA tube), extracted DNA (2 µg minimum, ≥50 ng/µL), or a single dried blood spot on an FTA card. Each option yields equivalent diagnostic accuracy; the choice is based on patient convenience and clinical context.
2. How does home sample collection operate across the UAE?
Our DHA-licensed mobile phlebotomists use temperature-controlled cold-chain kits to collect blood at your residence or office. Service is available daily from 8 AM to 11 PM. All staff follow stringent infection control protocols per DHA standards. For solid tissue or archival specimens, a secure medical courier retrieval is arranged instead.
3. Can this test be performed on a child or infant?
Yes, testing is appropriate for paediatric patients when geleophysic dysplasia is suspected. In accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability, written parental or guardian consent is mandatory, and a pre-test paediatric genetic counselling session is required to ensure informed decision-making.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance
- All genetic data is processed and stored in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health information handling adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Patient consent and clinical safety protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- DNA Labs UAE holds DHA Facility License Number 1143 and operates under ISO 15189:2022 quality standards for medical laboratories.
Clinical & Logistical Metadata
| Test Name | FBN1 Gene Geleophysic Dysplasia Type 2 Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA), extracted DNA, or FTA card blood spot |
| Methodology Used | Next-Generation Sequencing (NGS) with MLPA backup for CNV analysis |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 55233-1 |
| DHA Facility License & Laboratory Address | License 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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