Test Price
2,800 AEDโ Home Collection Available
KAT6B Gene Genitopatellar Syndrome Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited Next Generation Sequencing (NGS).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-certified professionals.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The KAT6B NGS test screens the entire coding region of the KAT6B gene for pathogenic mutations linked to Genitopatellar Syndrome (GPS) and Ohdo Syndrome, SBBYS variant. Delivered with clinical-grade accuracy and UAE-compliant logistics, it empowers families and physicians with definitive molecular diagnosis for dysmorphology-associated conditions.
| Feature | Our KAT6B NGS Test | Closest Alternative (Conventional Gene Panel) |
|---|---|---|
| Methodology | NGS with full exonic coverage + CNV detection, validated by Sanger confirmation | Sanger sequencing only; limited to known hotspots |
| Analytical Sensitivity | >99.9% for SNVs and small indels | ~98% for targeted regions, misses large rearrangements |
| Turnaround Time | 3โ4 weeks with interim clinical updates | 6โ8 weeks typical |
| Patient Support | Pre-test genetic counseling, post-test telephonic interpretation, VIP home collection | Limited to sample collection at facility |
Physician Insight & Safety Protocols
A note from Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403): โEvery childโs face and development tells a story; a KAT6B test helps read that story at the molecular level, but it must be woven together with the clinical picture. I encourage parents to see this as a piece of the puzzle, not the final answer. Our multidisciplinary team is here to support you through each step.โ
Important Medication Caution
Never stop, adjust, or initiate any medication without consulting the managing physician. This genetic test provides diagnostic information only and does not replace ongoing clinical care or prescribed treatments.
Safety Exclusion Criteria & ER Red Flags
- Severe bleeding disorders or therapeutic anticoagulation requiring special venipuncture precautions โ notify the phlebotomist in advance.
- Lack of legally authorized consent for a minor (per UAE Personal Data Protection Law and Federal Law No. 2 of 2019). Testing will not proceed without proper consent.
- Recent blood transfusion (< 2โ4 weeks) may cause sample admixture; reschedule to avoid inaccurate results.
- If any adverse reaction occurs after home collection (e.g., prolonged bleeding, hematoma, infection), contact emergency services immediately and notify our support line.
- This test is not intended for prenatal diagnosis without clear medical indication and specialist referral.
Patient FAQ & Clinical Guidance
1. What does the KAT6B gene test detect, and why is it clinically important?
The KAT6B NGS test identifies pathogenic mutations causing Genitopatellar Syndrome, a rare disorder with patellar, genital, and facial anomalies, intellectual disability. Early molecular diagnosis enables targeted developmental interventions, genetic counseling for family planning, and connection to specialist multidisciplinary care. Our NGS method covers all exons and copy number variants with thorough clinical interpretation.
2. How is the sample collected, and what pre-test preparation is required?
A simple blood draw (3โ5 mL in EDTA tube) or dried blood spot on FTA card is collected via our VIP cold-chain home service. No fasting is needed. A mandatory pre-test genetic counseling session will be arranged (in-clinic or via video call) to document family history, explain possible outcomes, and obtain informed consent for the minor per UAE law. You may continue all regular medications.
3. How long until results are ready, and what support follows?
Results are delivered in 3โ4 weeks with a detailed clinical report, and our DHA-certified genetic counselor provides a telephonic interpretation session. The report includes variant classification (ACMG guidelines), clinical correlation, and recommendations. Positive findings are communicated to the referring pediatrician/clinical geneticist for immediate management. All data is handled in strict compliance with UAE PDPL.
UAE Regulatory & Data Privacy Adherence
- Licensed by DHA/MOHAP (Facility No. 1143) โ Purely compliant 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.
- ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) โ Quality Management for Genetic Services.
- All genetic data encrypted and stored securely; access limited to authorized clinical personnel.
- Pre-test genetic counseling and informed consent, including pedigree drawing, is a mandatory requirement for processing.
Clinical & Logistical Metadata
| Test Name | KAT6B Gene Genitopatellar Syndrome Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or dried blood spot (FTA card) |
| Methodology Used | Whole exome NGS with CNV detection, Sanger confirmation of variants |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 96205-0 |
| DHA Facility License & Laboratory Address | License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians