Test Price
2,800 AED✅ Home Collection Available
SHOX Gene Short Stature Syndrome Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين SHOX لمتلازمة قصر القامة بتقنية التسلسل الجيني من الجيل التالي (NGS) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary – ملخص تنفيذي
- ✓ 99.9% Diagnostic Sensitivity – Achieved through ISO‑accredited NGS processing and advanced bioinformatics.
- ✓ Premium Logistics – Paid Hospital‑Grade Home Collection via ISO‑certified cold‑chain transport and VIP Mobile Phlebotomy.
- ✓ 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.
فحص جيني متقدم لتشخيص متلازمة قصر القامة المرتبطة بجين SHOX، معتمد من هيئة الصحة بدبي وفق معايير الجودة العالمية، لضمان أعلى دقة تشخيصية وسلامة بيانات المرضى.
Overview – نظرة عامة
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. هذا الفحص الجيني يغطي جميع الطفرات النقطية والتغيرات في عدد النسخ باستخدام تقنية التسلسل الجيني من الجيل التالي (NGS) لضمان تشخيص دقيق وشامل.
| 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 |
Pre‑Test Requirements – متطلبات قبل الفحص
1. Clinical History & Pedigree Chart: A detailed clinical history of the proband and a three‑generation family pedigree affected by short stature must be documented during a mandatory genetic counselling session.
2. Sample Collection: Options include EDTA whole blood, extracted DNA, or a single drop of blood on an FTA card – collected by our DHA‑licensed phlebotomist at your convenience (8 AM – 11 PM home service).
3. Informed Consent: Written consent is obtained in compliance with UAE Federal Decree‑Law No. 41 of 2024 (Art. 87) and the 2026 Child Data Sensitivity (CDS) Law; parental/guardian consent is mandatory for minors.
Physician Insight & Safety Protocol
"As a clinician specialising in paediatric genetics, I appreciate the emotional weight behind the decision to test for a SHOX‑related short stature syndrome. This NGS‑based analysis offers families a clear molecular diagnosis, enabling early intervention and personalised growth management. However, results must always be interpreted alongside clinical findings and serial height measurements to ensure a holistic care plan."
— Dr. PRABHAKAR REDDY, DHA License No. 61713011
Medication Warning
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
Q1: 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. طفرات جين SHOX تُعد من أبرز الأسباب الوراثية لقصر القامة مجهول السبب وخلل التنسج الهيكلي، ويقوم فحص التسلسل الجيني من الجيل التالي بتحديد الطفرات المسببة بدقة عبر كامل الجين.
Q2: 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 hospital‑grade home service from 8 AM to 11 PM daily. No special preparation is needed beyond the genetic counselling consult. يتم جمع العينة عبر سحب دم بسيط أو وضع نقطة دم واحدة على بطاقة FTA دون ألم تقريباً؛ حيث يقوم أخصائيو سحب الدم المرخصون من هيئة الصحة بدبي بإتمام العملية خلال دقائق معدودة في منزلكم.
Q3: 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 genetic specialist. We verify direct insurance billing via WhatsApp (+971 54 548 8731) before your appointment, ensuring transparency and peace of mind. تشمل تكلفة الفحص البالغة 2800 درهم كافة الخدمات: الاستشارة الوراثية قبل الفحص، وسحب العينة منزلياً، والتحليل الكامل بتقنية NGS، وتقرير طبي مفصل مُعد من قبل أخصائي الوراثة. نتحقق من تغطية التأمين مباشرة عبر الواتساب قبل الموعد.
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Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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