Test Price
2,800 AED✅ Home Collection Available
SHOC2 Gene (Noonan Syndrome-like) Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189:2022 Accredited Processing and Variant-Level Resolution.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Post-Test Results Conference and DHA-Licensed Consultant Medical Geneticist Counseling Session included.
- Insurance Validation: Direct Billing Verification and Pre-Authorization Assistance via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next‑generation sequencing (NGS) test analyzes the entire coding region and splice sites of the SHOC2 gene to detect pathogenic variants associated with Noonan syndrome‑like disorder with loose anagen hair and related RASopathies. Comprehensive molecular confirmation enables targeted surveillance for hypertrophic cardiomyopathy, growth hormone therapy management, and precise developmental interventions for both pediatric and adult patients.
| Feature | Our Test (DNA Labs UAE) | Closest Alternative |
|---|---|---|
| Precision | 100% coding region coverage with deletion/duplication analysis, variant‑level resolution validated against HGMD and ClinVar | Single‑site sequencing or limited targeted panel without CNV detection |
| Methodology | Illumina NovaSeq™ 6000 NGS + MLPA + Orthogonal Sanger confirmation for all reportable variants | Sanger sequencing only or low-coverage NGS without structural variant analysis |
| Turnaround Time | 3–4 weeks (expedited protocols available for urgent clinical cases) | 4–6 weeks |
Physician Insight & Safety Protocols
"Comprehensive molecular analysis of the SHOC2 gene is essential for differentiating Noonan syndrome-like disorder from other RASopathy phenotypes. However, a negative sequencing result does not definitively exclude the diagnosis, as deep intronic, mosaic, or methylation-related alterations may require supplementary cytogenetic or epigenetic studies. All findings must be interpreted strictly within the context of the patient's complete clinical phenotype and three-generation family pedigree."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Clinical Advisory & Medication Safety
⚠ Critical Medication Advisory
Do not discontinue, alter, or initiate any prescribed therapy (including growth hormone, beta-blockers, or ACE inhibitors for cardiac management) solely based on genetic test results without direct consultation with the treating physician. Genetic results inform long‑term surveillance and management strategies but do not substitute for acute clinical judgment or emergency medical care.
Exclusion Criteria & Emergency Red Flags
- Specimen Exclusion: Whole blood samples cannot be collected from individuals with severe coagulopathy or active systemic infection; alternative DNA sources (buccal swab/FTA card) are available upon clinical consultation.
- Clinical Exclusion: This test is not intended for standalone prenatal diagnosis or preimplantation genetic testing without prior DHA‑approved multidisciplinary genetic counseling.
- Sample Integrity: Inadequate DNA yield or degraded specimens will prompt a single complimentary recollection request at no additional cost to the patient.
- Emergency Red Flags (immediate medical attention required): Sudden onset chest pain, syncope, unexplained severe shortness of breath, or focal neurological deficits in individuals with Noonan‑like features — call 998 (Dubai Ambulance) without delay.
Patient FAQ & Clinical Guidance
1. What exactly does the SHOC2 gene test detect and how does it help my child?
This test identifies pathogenic mutations in the SHOC2 gene responsible for Noonan syndrome-like disorder with loose anagen hair. Confirming the molecular diagnosis enables your clinical geneticist to implement targeted surveillance protocols for hypertrophic cardiomyopathy, tailored growth hormone therapy, and specific developmental support plans, significantly improving long-term clinical outcomes.
2. Is the home collection service safe and how is the sample transported?
Absolutely. Our DHA‑licensed and specially trained phlebotomists utilize a validated temperature‑controlled cold‑chain logistics system. Samples are collected in your home environment using ISO 15189:2022 compliant protocols, with real‑time temperature and tamper‑evident monitoring from the point of collection to the laboratory accessioning area.
3. Will my health insurance cover this genetic test and what documents are required?
Most UAE-based health insurers provide coverage for medically indicated genetic testing when supported by a referral from a consultant clinical geneticist or pediatric cardiologist. We recommend submitting the DHA‑licensed geneticist's referral, clinical notes, and prior authorization request to your insurer. Our billing team can assist with direct billing verification and submission via WhatsApp +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
🔒 Data Privacy & Regulatory Compliance
DNA Labs UAE strictly adheres to the 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 is encrypted, access‑controlled, and processed solely for diagnostic purposes with explicit patient consent as outlined under Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genomic privacy is inviolable.
DHA Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Clinical & Logistical Metadata
| Test Name | SHOC2 Gene (Noonan Syndrome-like Disorder) Sequencing and Deletion/Duplication Analysis |
| Price (AED) | 2,800 AED (VAT inclusive, direct billing eligible) |
| Turnaround Time | 3–4 weeks (10–14 business days for sequencing; expedited protocols available upon request) |
| Sample Type / Matrix | Whole Blood (Peripheral, EDTA) or Buccal Swab / FTA Card. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next‑Generation Sequencing (Illumina NovaSeq™ 6000) with 100% coding region coverage + Multiplex Ligation‑dependent Probe Amplification (MLPA) for deletion/duplication analysis + Orthogonal Sanger confirmation for all reportable variants. |
| ICD-10-CM Code | Q87.1 (Congenital malformation syndromes predominantly associated with short stature) |
| LOINC Code | 94197-2 (SHOC2 gene full sequencing analysis) |
| DHA Facility License & Laboratory Address Invariants | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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