Test Price
2,800 AED✅ Home Collection Available
SHOX Gene Short Stature Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- ✓ 99.9% Diagnostic Sensitivity – Achieved through ISO‑accredited NGS processing and advanced bioinformatics.
- ✓ Premium Logistics – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM – 11 PM daily).
- ✓ Clinical Guidance – Telephonic post‑test clinical guidance for result interpretation with a DHA‑licensed genetic counsellor.
- ✓ Insurance – Direct Billing Verification via WhatsApp: +971 54 548 8731.
Test Overview & Methodology
The SHOX Gene NGS Test is a definitive molecular diagnostic for short stature syndromes (Léri‑Weill dyschondrosteosis, Langer mesomelic dysplasia, and idiopathic short stature) by analyzing the entire coding region of the SHOX gene using advanced next‑generation sequencing on the Illumina NovaSeq X Series platform. This comprehensive analysis detects point mutations, copy‑number variants, and structural rearrangements with greater than 99.9% analytical sensitivity.
| Feature | Our Test (NGS Full Gene) | Closest Alternative (MLPA/FISH) |
|---|---|---|
| Precision | >99.9% sensitivity for point mutations and copy‑number variants | ~80% sensitivity; misses small insertions/deletions |
| Methodology | Next‑Generation Sequencing (Illumina NovaSeq X Series) | Multiplex Ligation‑dependent Probe Amplification or FISH |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
Physician Insight & Safety Protocols
"A definitive molecular diagnosis of SHOX-related short stature syndrome transforms uncertainty into a clear clinical pathway. For families navigating growth concerns, this NGS-based analysis provides actionable insights that guide growth hormone therapy decisions and long-term skeletal monitoring. However, results must always be correlated with auxological parameters, skeletal surveys, and serial height velocity assessments to ensure comprehensive, patient-centred care."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue any prescribed medication (e.g., growth hormone, thyroid replacement) without consulting your treating physician. Genetic test results inform, but never override, clinical judgement.
Safety & Exclusion Criteria
- Exclusion Criteria: Incomplete pedigree or lack of informed consent; active febrile illness or chemotherapy within 2 weeks; known interfering antibodies that may compromise sample integrity.
- Emergency Red Flags: If you or your child experience sudden worsening of limb deformity, acute bone pain, or neurological symptoms (e.g., weakness, numbness) – seek urgent medical attention immediately. This test is not a substitute for emergency care.
Patient FAQ & Clinical Guidance
1. What exactly does the SHOX gene test reveal about short stature?
SHOX gene mutations are a leading genetic cause of idiopathic short stature and skeletal dysplasia; the NGS test uncovers pathogenic variants across the entire gene, enabling precise diagnosis. Unlike traditional methods, this analysis detects both point mutations and large deletions or duplications, providing a comprehensive genetic blueprint for your clinician.
2. How is the sample collected, and is the procedure painful?
A simple blood draw or a painless single‑drop blood spot on an FTA card is used; our DHA‑licensed mobile phlebotomists complete the collection in minutes with minimal discomfort. We offer VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection from 8 AM to 11 PM daily. No special preparation is needed beyond the genetic counselling consult.
3. What does the 2800 AED test cost include, and is insurance accepted?
The 2800 AED all‑inclusive fee covers pre‑genetic counselling, home sample collection, full NGS analysis, and a detailed clinical report interpreted by a Consultant Medical Genetics specialist. We verify direct insurance billing via WhatsApp (+971 54 548 8731) before your appointment, ensuring transparency and peace of mind.
UAE Regulatory & Data Privacy Adherence
This SHOX gene analysis is performed at DNA Labs UAE under DHA Facility License Number 1143, strictly adhering to 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 with explicit patient consent as mandated by Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genomic privacy is protected by design.
Clinical & Logistical Metadata
| Test Name | SHOX Gene Short Stature Syndrome Genetic Test (NGS Full Gene Sequencing) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | EDTA Whole Blood, Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next‑Generation Sequencing (Illumina NovaSeq X Series) |
| ICD-10-CM Code | Q87.1 (Congenital malformation syndromes predominantly associated with short stature) |
| LOINC Code | 81345-3 (SHOX gene full sequencing) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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