Test Price
2,800 AED✅ Home Collection Available
EXT1 Gene (Langer‑Giedion Syndrome) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين EXT1 لمتلازمة لانغر‑غيديون بتقنية التسلسل الجيني من الجيل التالي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary | ملخص تنفيذي
يقدم هذا التحليل الجيني الشامل تشخيصًا دقيقًا لمتلازمة لانغر‑غيديون عبر الجيل التالي من التسلسل، مع ضمان دقة 99.9% عبر مختبر معتمد دوليًا، وخدمة سحب منزلي مرخصة من هيئة الصحة.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity – ISO 9001:2015 accredited wet‑lab & bioinformatics pipeline.
- Premium Logistics: Paid hospital‑grade home collection via ISO‑certified cold‑chain transport from 8 AM to 11 PM, 7 days a week.
- Clinical Guidance: Complimentary telephonic post‑test clinical interpretation with a DHA‑licensed genetic specialist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731. Most major UAE insurers covered.
DHA Licensed
Facility No. 9834453
ISO 9001:2015
Cert: INT/EGQ/2509DA/3139
Overview
The EXT1 Gene (Langer‑Giedion Syndrome) NGS test is a definitive molecular diagnosis tailored for dysmorphology and hereditary multiple exostoses. Using whole‑blood, extracted DNA, or a single dried blood spot, the assay interrogates the full EXT1 coding region and flanking introns for single‑nucleotide variants and large deletions – a crucial step in confirming trichorhinophalangeal syndrome type II (Langer‑Giedion) and guiding lifelong multidisciplinary care.
اختبار جين EXT1 يقدم تشخيصًا جزيئيًا قاطعًا لمتلازمة لانغر‑غيديون عبر تحليل الطفرات النقطية والحذف الجيني الكبير باستخدام التسلسل من الجيل التالي، مما يدعم اتخاذ القرار الطبي العائلي والجراحي المبكر.
| Feature | Our Test (EXT1 NGS + CNV) | Closest Alternative (Sanger/CMA) |
|---|---|---|
| Precision | >99.9% sensitivity for all variant types including contiguous deletions | Sanger only detects point mutations (~90% for sequence variants), CMA misses intragenic copy‑neutral rearrangements |
| Method | NGS (Next‑Generation Sequencing) with MLPA confirmation of deletion breakpoints | Sanger sequencing (limited to coding regions) ± chromosomal microarray |
| Speed | 3–4 weeks from sample receipt | Sanger ~2 weeks (only partial), CMA ~3 weeks (no sequence data); combined may require 5+ weeks |
| Regulatory | DHA‑licensed, ISO 9001:2015, compliant with Federal Decree‑Law 41/2024 | Often offshore labs without UAE genetic testing license |
Comparison based on Dubai Health Authority genetic testing standards, 2026.
Clinical Specialists & Interpretation
👶 Pediatricians
Front‑line diagnosis of dysmorphic features, intellectual disability, and multiple exostoses in children. Clinical intent: early identification for orthopedic surveillance and developmental support.
🏥 Neonatologists
Rapid molecular confirmation in newborns with suspected congenital anomaly syndromes, enabling immediate NICU planning and family counselling.
🔬 Medical & PhD Researchers
Advanced genotyping for cohort studies, genotype‑phenotype correlation, and biomarker discovery in hereditary cancer predisposition (EXT1‑related pathways).
Physician Insight & Safety Protocol
“This test detects mutations in EXT1 that cause Langer‑Giedion syndrome and hereditary multiple exostoses. It is not a standalone diagnostic: results must be correlated with clinical findings, imaging, and family history. A positive result should prompt immediate paediatric genetic consultation; a negative result does not exclude all genetic disorders.”
— Dr. PRABHAKAR REDDY, DHA License 61713011, Clinical Geneticist & Pediatrician
⚠ Medication Safety Warning
Do not discontinue prescribed medication without consulting your doctor. Many children with Langer‑Giedion syndrome require ongoing medication for pain, growth, or surgical recovery; stopping them abruptly can cause serious harm.
🚨 Exclusion Criteria & Emergency Red Flags
- Exclusion: Active febrile infection, severe anaemia (Hb < 7 g/dL), or known coagulopathy unless cleared by a haematologist.
- Exclusion: Children under 2 years must have a paediatrician‑supervised collection plan.
- Red Flag: Sudden neurological deterioration, uncontrollable seizures, or acute respiratory distress in a suspected genetic syndrome — go directly to the nearest emergency department before scheduling genetic testing.
Patient FAQ & Clinical Guidance
1. How accurate is the EXT1 NGS test for diagnosing Langer‑Giedion syndrome, and can it detect all genetic changes?
With 99.9% diagnostic sensitivity for single‑nucleotide variants and large deletions, this test is the gold‑standard molecular assay for Langer‑Giedion syndrome in the UAE. It detects point mutations, insertions/deletions, and contiguous gene deletions involving EXT1 and the adjacent TRPS1 region, but rare deep intronic variants or balanced rearrangements may require complementary testing.
بدقة تصل إلى 99.9% في كشف الطفرات النقطية والحذف الجيني الكبير، يُعد هذا الفحص المرجعي التشخيصي المعتمد في الإمارات لمتلازمة لانغر‑غيديون.
2. What does the 2800 AED price include, and how is the sample collected safely at home?
The 2800 AED covers hospital‑grade home phlebotomy by a DHA‑licensed nurse, ISO‑certified cold‑chain transport, full NGS sequencing with copy‑number analysis, clinical interpretation, and a tele‑consultation to explain results. We accept children and adults; a single blood drop on an FTA card is an alternative if venipuncture is difficult.
تشمل رسوم 2800 درهم السحب المنزلي المعتمد من هيئة الصحة، والنقل المبرد، وكامل التحليل الجيني، بالإضافة إلى استشارة تفسيرية هاتفية.
3. Are my child’s genetic data protected under UAE law, and can the sample be used for research?
All genetic data is protected under the UAE Personal Data Protection Law and the Child Data Security Law 2026; no identifiable results are shared without explicit consent. Samples are processed exclusively in our DHA‑licensed facility and are not used for research unless a separate IRB‑approved consent is signed.
البيانات الجينية محمية بموجب قانون حماية البيانات الشخصية وقانون أمن بيانات الطفل، ولا تُستخدم العينات لأي أبحاث دون موافقة مستقلة.
Pre‑ Preparation
- A detailed clinical history and three‑generation pedigree must be provided.
- A mandatory genetic counselling session (onsite or telehealth) will be arranged to discuss inheritance, possible outcomes, and psychosocial implications.
- No drug or dietary restrictions before blood draw, but maintain usual medication schedule unless advised otherwise.
2026 ICD‑10‑CM Codes: Q87.8 (Langer‑Giedion syndrome/trichorhinophalangeal type II), Q87.0 (trichorhinophalangeal syndrome type I – contiguous deletion), Z15.89 (genetic susceptibility to hereditary multiple exostoses).
LOINC Code: 101423-6 – EXT1 gene mutations found.
This service strictly complies with Federal Decree‑Law No. 41 of 2024 (Article 87), CDS Law 2026, and UAE PDPL. Facility license: 9834453. ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).
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التحقق من التغطية التأمينية
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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.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians