Test Price
2,800 AED✅ Home Collection Available
KANSL1 Gene Koolen Syndrome Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين KANSL1 لمتلازمة كولين في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
الملخص التنفيذي • Executive Summary
نضمن دقة تشخيصية تصل إلى 99.9% عبر معالجة مخبرية متوافقة مع ISO و فريق متخصص في الوراثة السريرية.
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing – every variant confirmed by bidirectional Sanger sequencing as a reflex.
- ✓ Premium Logistics: Paid Hospital‑Grade Home Collection via ISO‑Certified Cold‑Chain Home Collection and VIP Mobile Phlebotomy (UAE‑wide, temperature‑monitored).
- ✓ Clinical Guidance: Telephonic Post‑Test Clinical Guidance in result interpretation with a board‑certified Clinical Geneticist (available in English/Arabic).
- ✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731 – instant pre‑approval for all major UAE networks.
Clinical Test Overview
The KANSL1 Gene Koolen Syndrome Genetic Test is a next‑generation sequencing assay analysing all coding exons and flanking intronic regions of the KANSL1 gene to detect pathogenic variants responsible for Koolen‑de Vries syndrome (17q21.31 microdeletion syndrome). This test transforms a blood, extracted DNA, or dried blood spot sample into a clinically actionable report, empowering paediatricians, clinical geneticists, and neonatologists with definitive molecular diagnosis. يُعدّ هذا الفحص الجيني الشامل الأداة الأكثر دقة لتأكيد متلازمة كولين لدى الأطفال الذين يعانون من تأخر النمو و ملامح وجهية مميزة.
| Parameter | Our Test (NGS Full‑Gene Sequencing) | Closest Alternative (Chromosomal Microarray) |
|---|---|---|
| Precision | 99.9% sensitivity for single‑nucleotide variants, indels & exon‑level CNVs | ~85% detection for the classic 17q21.31 deletion; misses intragenic variants |
| Methodology | Next‑Generation Sequencing (NGS) with Sanger confirmation | Oligonucleotide array CGH (aCGH) |
| Turnaround Time | 3 to 4 Weeks | 5 to 6 Weeks |
| Sample Types | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) | Whole Blood only |
| Cost | 2800 AED | 3500 AED (approximate) |
Physician Insight & Safety Protocol
“As a paediatrician, I understand the emotional weight carried by families seeking answers for their child’s developmental delays. The KANSL1 gene test offers a definitive molecular diagnosis for Koolen syndrome, yet it must always be correlated with a full clinical evaluation. A negative result does not rule out other genetic aetiologies, and a positive result should prompt cascade screening and genetic counselling. Every result is a piece of a larger clinical puzzle, never a standalone verdict.”
– Dr. PRABHAKAR REDDY, DHA Licence No. 61713011, Specialist Paediatrician
⚠️ Medical Advisory: Do not discontinue any prescribed medication or therapy without consulting your treating doctor. This genetic test neither replaces clinical management nor recommends treatment alterations.
Pre‑Test Exclusion Criteria & Emergency Red Flags
Exclusion criteria for home/site collection: Known severe coagulopathy or active bleeding disorder (risk of haematoma), inability to provide informed consent (guardian must be present for minors), or an acute febrile illness with temperature >38.5°C (postpone collection until afebrile for 48 hours).
Emergency Red Flags – seek immediate medical attention, not test collection: Child experiencing new‑onset seizures, loss of consciousness, respiratory distress, or sudden behavioural regression. The phlebotomy visit is not an emergency service; call 998 for urgent care.
Frequently Asked Questions & Clinical Guidance
1. What does the KANSL1 gene test detect, and why is it important for my child?
Direct Answer: The identifies disease‑causing variants in the KANSL1 gene, responsible for Koolen‑de Vries syndrome—a developmental disorder featuring intellectual disability, speech delay, and distinctive facial features. A positive result ends the diagnostic odyssey, guides therapy, and enables accurate genetic counselling for future pregnancies.
ما الذي يكشفه تحليل جين KANSL1؟ يحدد التحليل الطفرات الممرضة في جين KANSL1 المسببة لمتلازمة كولين، التي تتميز بتأخر النمو العقلي والحركي وملامح وجهية مميزة، مما يسمح بتوجيه الرعاية الطبية والاستشارة الوراثية.
2. How is the sample collected, and is a blood draw mandatory?
Direct Answer: You can choose between a standard venous blood draw, submission of previously extracted DNA, or a painless one‑drop blood spot on an FTA card—ideal for infants. A trained phlebotomist visits your home; the sample is transported in an ISO‑certified cold chain to prevent degradation.
كيف يتم جمع العينة؟ تتوفر ثلاثة خيارات: سحب دم وريدي، أو تقديم حمض نووي مستخلص مسبقاً، أو بقعة دم جافة على بطاقة FTA لا تحتاج إلا لقطرة واحدة، وتُنقل العينة بسلسلة تبريد معتمدة.
3. When will I receive the results, and who explains them?
Direct Answer: The final NGS report is delivered within 3 to 4 weeks; a board‑certified clinical geneticist will conduct a complimentary tele‑counselling session to explain the findings, discuss recurrence risks, and coordinate further management with your paediatrician.
متى تظهر النتائج ومن يفسّرها؟ تصدر النتائج خلال 3 إلى 4 أسابيع، ويقدم أخصائي الوراثة السريرية جلسة استشارة هاتفية مجانية لشرح التقرير ومناقشة المخاطر المتكررة مع طبيبك.
✅ UAE Healthcare Compliance: All testing adheres to Federal Decree‑Law No. 41 of 2024 (Art. 87) on Genetic Testing, CDS Law 2026 (Minor Consent & Data Protection), and UAE PDPL. Patient data is stored on encrypted MOHAP‑approved servers.
✅ ISO 9001:2015 Certification: INT/EGQ/2509DA/3139 – audited by Lloyds Register Quality Assurance.
✅ Facility Licence: 9834453 (DHA‑regulated genetic testing facility).
📞 Support: Call/WhatsApp +971 54 548 8731 for urgent scheduling, billing, or clinical queries (8 AM – 11 PM daily).
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Available in Arabic, English, Hindi & Urdu
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All reports reviewed by DHA-Certified physicians