Test Price
2,800 AED✅ Home Collection Available
FAM20C Gene Raine Syndrome NGS Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by a certified genetic counsellor.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731 (PDPL-compliant).
Test Overview & Methodology
The FAM20C gene encodes a kinase essential for bone mineralization and phosphate regulation; pathogenic mutations cause Raine syndrome, a lethal osteosclerotic bone dysplasia with dermatological and immunological features. This Next-Generation Sequencing (NGS) test interrogates all coding exons and flanking intronic regions to detect single nucleotide variants, small insertions/deletions, and copy number alterations with high analytical sensitivity.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Methodology | NGS (Illumina® platform) | Sanger sequencing (gene-by-gene) |
| Coverage | Whole gene ± flanking regions | Targeted exons only |
| Turnaround Time | 3 – 4 Weeks | 6 – 8 Weeks |
| Sensitivity | >99.9% (orthogonal validation confirmed) | ~97% |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I recognize the emotional weight that accompanies genetic testing for rare disorders such as Raine syndrome. A positive finding does not define a child's potential; rather it equips families with actionable knowledge for tailored medical surveillance and recurrence risk counselling. I strongly recommend reviewing all results with your referring clinician to construct a personalised management plan grounded in current evidence.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠ Medication & Safety Advisory
Do not discontinue any prescribed medication without explicit instruction from your treating physician.
Exclusion Criteria / Emergency Red Flags
- This test is not intended for emergency diagnosis and cannot exclude acute life-threatening complications of Raine syndrome.
- Should the patient develop respiratory distress, intractable seizures, severe infections, or neonatal fractures, seek immediate emergency medical care.
- The service is indicated only for individuals with clinical suspicion or a documented family history; it is not a screening tool for asymptomatic minors without appropriate parental consent and genetic counselling, in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. What is the FAM20C gene Raine syndrome NGS test and why is it performed?
This advanced genetic test sequences the entire FAM20C gene using Next-Generation Sequencing to detect pathogenic variants that cause Raine syndrome, a lethal osteosclerotic bone dysplasia with associated skin and immune system involvement. It is performed to confirm a clinical suspicion, guide prognosis, and inform family planning.
2. How is the sample collected and is it painful?
A standard peripheral whole blood sample (EDTA tube), an extracted DNA specimen, or a single dried blood spot on an FTA card is collected by a certified phlebotomist. The procedure involves minimal discomfort comparable to a routine blood draw.
3. What do the results mean for my family and future planning?
Results identify pathogenic or likely pathogenic variants in FAM20C, enabling accurate genetic counselling, recurrence risk assessment for future pregnancies, and cascade testing of at-risk family members. A negative result does not completely exclude all genetic causes but significantly reduces the likelihood of Raine syndrome.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates in full compliance 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. All genetic data, clinical records, and personally identifiable information are encrypted, access-controlled, and processed under strict confidentiality protocols. The laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and adheres to the ethical and safety standards mandated by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | FAM20C Gene Raine Syndrome NGS Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina Platform |
| ICD-10-CM Code | Q78.8 |
| LOINC Code | 94762-2 |
| DHA Facility License & Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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