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Test Price

3,000 AED

โœ… Home Collection Available

DHA-APPROVED GENETIC TESTING

Noonan-RASopathies Panel Genetic Test in UAE | 3000 AED | DHA-Approved

ISO 9001:2015 Certified Lab INT/EGQ/2509DA/3139

Executive Summary & Core Metrics

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Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited NGS Processing. Covering 22 critical genes across the RAS-MAPK signaling pathway with clinically validated variant interpretation aligned to current ACMG/AMP guidelines.

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Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all seven Emirates โ€” Dubai, Abu Dhabi, Sharjah, Ajman, Umm Al Quwain, Ras Al Khaimah, and Fujairah.

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Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by qualified genetic counselors fluent in both English and Arabic, ensuring families understand pathogenic, likely pathogenic, and VUS findings.

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Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731. We coordinate with all major UAE insurers including Daman, AXA, Oman Insurance, and Neuron.

Test Price: 3000 AED inclusive of all laboratory fees, genetic counseling, and courier services. Results delivered within 3 to 4 weeks from sample receipt.

Test Overview & Methodology

The Noonan-RASopathies Panel Genetic Test is a comprehensive next-generation sequencing assay designed to detect germline mutations across 22 genes implicated in the RAS-MAPK signaling pathway. This panel is the gold standard for molecular confirmation of Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome, Legius syndrome, and neurofibromatosis type 1 โ€” collectively termed RASopathies. Clinically indicated for pediatric and adult patients presenting with dysmorphic features, congenital heart defects (especially pulmonic stenosis and hypertrophic cardiomyopathy), short stature, developmental delay, and failure to thrive, this test delivers actionable diagnostic clarity for families across the UAE.

Genes Analyzed (22-Gene Panel)

BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, TSC1, TSC2

Feature Our NGS Panel (This Test) Closest Alternative (Single-Gene Sequencing)
Precision NGS with >99.9% analytical sensitivity across all 22 genes simultaneously; full exon coverage including splice-site junctions Sanger sequencing of individual genes; limited to one gene per run; may miss deep intronic variants and mosaic mutations
Methodology Next Generation Sequencing (NGS / Illumina Platform) with bioinformatic analysis aligned to GRCh38/hg38 reference genome Capillary-based Sanger sequencing; no multiplexing capability; limited variant detection in low-level mosaicism
Turnaround Time 3 to 4 Weeks 8 to 16+ Weeks (cumulative across multiple genes)
Cost Efficiency 3000 AED for all 22 genes โ€” single comprehensive report Individual gene tests may cost 2000โ€“4000 AED each; cumulative cost prohibitive for full differential diagnosis
Clinical Utility Differential diagnosis across all RASopathies simultaneously; actionable for surgical planning, oncologic surveillance, and genetic counseling Stepwise testing delays definitive diagnosis; may miss overlapping phenotypes requiring multi-gene assessment

Physician Insight & Safety Protocols

DR

Clinical Note from Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA License: 9294403): "As a consultant medical geneticist, I have overseen the interpretation of hundreds of RASopathy panels. This test is most impactful when correlated with a detailed physical examination and family history. A negative NGS result does not exclude a clinical diagnosis of Noonan syndrome; non-coding variants, epigenetic factors, and as-yet-undiscovered genes may still contribute to the phenotype. I strongly recommend all families engage in pre-test and post-test genetic counseling to contextualize results within their unique clinical picture."

Advisory: Medication Continuation

โš  IMPORTANT CLINICAL NOTICE: Do not discontinue any prescribed medication without consulting your treating physician. This genetic test is diagnostic and informational; it does not replace ongoing medical management. Growth hormone therapy, cardiac medications, or any other prescribed treatments should continue as directed by your specialist pending test results.

Exclusion Criteria & Emergency Red Flags

Exclusion Criteria (Do Not Proceed Without Medical Clearance)

  • Acute febrile illness or active systemic infection at time of blood draw โ€” may affect DNA quality
  • Recent blood transfusion (within 4 weeks) โ€” may cause sample chimerism and false results
  • Active chemotherapy with known myelosuppression โ€” may yield insufficient leukocyte DNA
  • Known bone marrow transplant recipient โ€” donor DNA may confound germline variant interpretation
  • Inability to provide informed consent for genetic testing as per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability

Emergency Red Flags โ€” Seek Immediate Medical Attention

  • New-onset cyanosis, severe shortness of breath, or syncope in a child with suspected RASopathy โ€” may indicate critical cardiac decompensation
  • Signs of increased intracranial pressure: severe headache, vomiting, lethargy, or bulging fontanelle in infants โ€” risk with NF1-associated optic pathway gliomas
  • Acute neurological deficit, seizure, or altered consciousness โ€” requires emergency evaluation regardless of pending genetic test status
  • Failure to thrive with severe dehydration or electrolyte imbalance in neonates โ€” urgent pediatric assessment required

This panel is a diagnostic tool, not an emergency screening device. If your child experiences any of the above symptoms, proceed immediately to the nearest emergency department. Do not wait for genetic test results.

Patient FAQ & Clinical Guidance

1. What conditions does the Noonan-RASopathies Panel actually test for, and how long until I receive results?

A: This comprehensive 22-gene next-generation sequencing panel simultaneously analyzes all major genes associated with Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome, Legius syndrome, and neurofibromatosis types 1 and 2, delivering definitive molecular diagnostic results within 3 to 4 weeks. The panel's breadth eliminates the need for sequential single-gene testing, which can take months and cost significantly more. Each report includes variant classification per ACMG/AMP guidelines, zygosity status, and clinically actionable recommendations for cardiac surveillance, developmental support, and oncologic monitoring where relevant. Post-test genetic counseling is included to help families understand pathogenic findings and recurrence risks for future pregnancies.

2. Can this test be performed on newborns and infants in the UAE?

A: Yes, the Noonan-RASopathies Panel can be performed on newborns and infants across the UAE, provided parental or legal guardian consent is obtained and there is a clear clinical indication. The test is used to confirm diagnosis in infants presenting with congenital heart defects, dysmorphic facial features, or growth delay. Blood sample collection via heel prick or peripheral venipuncture is performed by a certified pediatric phlebotomist. All genetic testing on minors complies with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring the test is in the best interest of the child.

3. What happens if my result is negative or shows a variant of uncertain significance (VUS)?

A: A negative result on the Noonan-RASopathies NGS panel does not entirely exclude a clinical diagnosis, as non-coding deep intronic variants, epigenetic modifications, or novel genes not yet included in the panel may still be responsible for the observed phenotype. In cases where a variant of uncertain significance (VUS) is identified, our laboratory provides detailed in silico prediction data, population frequency analysis, and family segregation studies to refine interpretation over time. We offer complimentary variant reclassification reviews annually as new scientific evidence emerges, ensuring your report remains clinically relevant. Your genetic counselor will discuss the implications of negative and VUS results, recommend any additional testing if clinically indicated, and coordinate referrals to specialist clinics within the UAE for ongoing management.

UAE Regulatory & Data Privacy Adherence

  • โœ“ Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genomic data is stored, processed, and transmitted in compliance with UAE data sovereignty requirements. Patient genetic data is never shared with third parties without explicit written consent.
  • โœ“ Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Electronic health records, including genetic test results, are managed under secure, auditable frameworks that ensure confidentiality and integrity.
  • โœ“ Federal Decree-Law No. 4 of 2016 on Medical Liability: All clinical procedures, including informed consent for genetic testing and sample collection, adhere to the standards of medical liability and patient safety defined by this law.
  • โœ“ ISO 9001:2015 Certified โ€” Certificate No. INT/EGQ/2509DA/3139. Quality management system audited annually for continuous compliance.
  • โœ“ MOHAP Standards Alignment: All laboratory protocols follow UAE Ministry of Health and Prevention guidelines for clinical genetic testing, including proficiency testing through external quality assessment schemes.

Clinical & Logistical Metadata

Test Name Noonan-RASopathies Panel Genetic Test
Price (AED) 3000 AED
Turnaround Time 3 to 4 Weeks
Sample Type / Matrix Whole Blood (EDTA, 3-5 mL), Extracted DNA (โ‰ฅ1 ยตg), or FTA Card
Methodology Used Next-Generation Sequencing (Illumina Platform) with bioinformatic analysis per GRCh38
ICD-10-CM Code Q87.1, Q87.19
LOINC Code 92718-9
DHA Facility License & Laboratory Address DHA Facility License: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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โœ… DHA Certified โœ… ISO 15189 โœ… HIPAA Compliant

Available in Arabic, English, Hindi & Urdu

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ISMS 27001:2022

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ISO Accredited

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HIPAA

All reports reviewed by DHA-Certified physicians