Test Price
2,800 AED✅ Home Collection Available
RAF1 Gene Noonan Syndrome Type 5 (NS5) Genetic Test | Confirmatory NGS in Dubai
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Next-Generation Sequencing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM – 11 PM) or hospital-based extraction.
- Clinical Guidance: Post-Test telephonic interpretation and genetic counseling by a DHA-licensed Consultant Medical Geneticist.
- Financial Cover: Direct Billing Verification & Insurance TPA via WhatsApp +971 54 548 8731.
- Turnaround Time: Results within 14 – 21 working days.
Test Overview & Methodology
The RAF1 Gene Noonan Syndrome Type 5 Genetic Test is a targeted diagnostic assay used to confirm clinical suspicions of RASopathy spectrum disorders. Pathogenic variants in the RAF1 gene are specifically linked to Noonan Syndrome Type 5, which classically presents with characteristic facial dysmorphism, congenital heart defects (most commonly hypertrophic cardiomyopathy and pulmonary stenosis), short stature, and developmental delays. This test utilizes high-fidelity Next-Generation Sequencing (NGS) to analyze the full coding region and splice junctions of the RAF1 gene, delivering single-nucleotide and small indel resolution with exceptional analytical sensitivity.
| Feature | Our RAF1 NGS Test | Sanger Sequencing (Alternative) |
|---|---|---|
| Precision | Detects single nucleotide variants, small indels with >99.9% analytical sensitivity | Targeted exons only; may miss variants outside known hotspots |
| Methodology | Next-Generation Sequencing (NGS) – full gene coverage | Sanger sequencing – limited to specific regions |
| Turnaround Speed | 14 – 21 Days | 21 – 40 Days |
| Regulatory Compliance | UAE PDPL, Law 2/2019, Medical Liability Law 4/2016 | Varies; may not meet local genetic data laws |
Physician Insight & Safety Protocols
“Early molecular confirmation of Noonan Syndrome Type 5 is essential for guiding cardiac surveillance, growth management, and developmental intervention. As a clinical geneticist, I emphasize that this NGS test provides a definitive molecular diagnosis, but results must always be contextualized within the full clinical picture, family history, and multidisciplinary assessment. I strongly recommend pre- and post-test genetic counseling to ensure families fully understand the implications of the results.”
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Important Medication & Treatment Advisory
⚠️ Medical Guidance: Do not discontinue, initiate, or alter any prescribed medications, cardiac therapies, or growth hormone regimens based solely on test results without consulting your managing physician. Genetic test results are one component of a comprehensive clinical assessment.
Exclusion Criteria & Clinical Safety Red Flags
Patient Safety Warnings
- Exclusion Criteria: This test is not intended for prenatal diagnosis or carrier screening for the general population. It is strictly indicated for individuals presenting with clinical features consistent with a RASopathy, or for confirmatory testing in patients with a known familial mutation. Asymptomatic individuals without a clinical indication should consult a geneticist before proceeding.
- Emergency Red Flags: Noonan Syndrome Type 5 carries a high risk of Hypertrophic Cardiomyopathy and severe pulmonary stenosis. If the patient experiences acute chest pain, unexplained syncope, profound breathlessness, cyanosis, or palpitations, seek immediate emergency medical attention. This test does not replace acute cardiac monitoring or emergency care protocols.
Patient FAQ & Clinical Guidance
1. What is the RAF1 Gene Noonan Syndrome Type 5 test, and who should get it?
This is a targeted Next-Generation Sequencing (NGS) test that analyzes the entire coding sequence of the RAF1 gene to identify pathogenic mutations responsible for Noonan Syndrome Type 5 (NS5). It is prescribed by geneticists or pediatricians for individuals presenting with typical NS5 features such as distinct facial characteristics, congenital heart defects (especially hypertrophic cardiomyopathy), short stature, pectus deformities, or undescended testes. It is the gold standard for confirming a clinical diagnosis and differentiating NS5 from other RASopathies.
2. How is the sample collected, and what is the process for at-home collection?
The test requires a standard peripheral blood sample (3-5 mL in an EDTA tube) or a high-quality buccal swab. For pediatric or immobile patients, our VIP Mobile Phlebotomy service conducts a temperature-controlled, ISO-compliant home visit across Dubai and the Northern Emirates, operating daily from 8 AM to 11 PM. The collected specimen is securely transported to our CAP-accredited laboratory in Dubai Healthcare City under strict cold-chain protocols to ensure genomic DNA integrity.
3. How are my genetic data and insurance information handled?
Your genomic data is strictly anonymized and encrypted. We 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. Insurance pre-approval and direct billing eligibility can be verified within minutes via our WhatsApp concierge at +971 54 548 8731. Your data is never shared without your explicit, written consent.
4. What do the results mean for my family and me?
A positive result confirms a molecular diagnosis of Noonan Syndrome Type 5, which enables targeted cardiac surveillance, growth hormone therapy evaluation, and developmental support planning. It also carries implications for first-degree relatives who may be at risk. A negative result does not completely exclude a RASopathy, as variants may exist in other genes (e.g., PTPN11, SOS1, KRAS) or in non-coding regions. Our consultant geneticist provides a comprehensive post-test telephonic consultation to explain the results in plain language and guide next steps.
UAE Regulatory & Data Privacy Adherence
Federally Compliant Data Governance & Clinical Safety
- Personal Data Protection: This service operates in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring your genetic information is processed lawfully, transparently, and securely.
- Health ICT Security: Our digital health infrastructure adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, providing the highest standards of cybersecurity for electronic medical records and genomic data.
- Clinical Liability & Patient Consent: All clinical procedures, genetic counseling sessions, and sampling protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability, guaranteeing patient safety and informed consent.
- Quality Management: Our laboratory is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139), validating our commitment to rigorous quality control and continuous process improvement.
Clinical & Logistical Metadata
| Test Name | RAF1 Gene Noonan Syndrome Type 5 (NS5) – NGS Sequencing |
| Price (AED) | 2,800 |
| Turnaround Time | 14 – 21 Working Days |
| Sample Type / Matrix | Whole Blood (EDTA), Buccal Swab, or Extracted Genomic DNA |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Coding Region & Splice Junctions |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 21636-6 |
| DHA Facility License & Address | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | License No: 1143 |
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