Test Price
2,800 AED✅ Home Collection Available
KANSL1 Gene Koolen Syndrome Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
We guarantee 99.9% diagnostic sensitivity through ISO‑accredited processing, with every variant confirmed by bidirectional Sanger sequencing as a reflex. Our premium logistics include VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM across the UAE.
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing – every variant confirmed by bidirectional Sanger sequencing as a reflex.
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (UAE‑wide, daily 8 AM – 11 PM).
- ✓ Clinical Guidance: Telephonic Post‑Test Clinical Guidance in result interpretation with a board‑certified Clinical Geneticist (English/Arabic available).
- ✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731 – instant pre‑approval for all major UAE networks.
Test Overview & Methodology
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 whole blood, extracted DNA, or dried blood spot (FTA card) sample into a clinically actionable report, empowering paediatricians, clinical geneticists, and neonatologists with definitive molecular diagnosis.
| 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 | 2,800 AED | 3,500 AED (approximate) |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I understand the emotional weight carried by families seeking answers for a 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.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice
⚠️ 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.
Patient FAQ & Clinical Guidance
1. What does the KANSL1 gene test detect, and why is it important for my child?
Direct Answer: The test 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.
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.
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.
UAE Regulatory & Data Privacy Adherence
Data Protection: All patient data is processed and stored in accordance with 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. Clinical testing safety and patient consent adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Accreditations: ISO 9001:2015 Certification (INT/EGQ/2509DA/3139) – audited by Lloyds Register Quality Assurance.
Support: Call/WhatsApp +971 54 548 8731 for urgent scheduling, billing, or clinical queries (8 AM – 11 PM daily).
Clinical & Logistical Metadata
| Test Name | KANSL1 Gene Koolen Syndrome Genetic Test (NGS Full‑Gene Sequencing) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) |
| Methodology Used | Next‑Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | Q93.5 (Deletion of other part of a chromosome) |
| LOINC Code | 94888-9 (KANSL1 gene full sequencing) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians