Test Price
2,800 AEDโ Home Collection Available
YAP1 Gene Coloboma, Ocular, with or without Hearing Impairment, Cleft Lip/Palate, and/or Mental Retardation Genetic Test in UAE
Executive Summary & Core Metrics
This advanced next-generation sequencing (NGS) test detects pathogenic variants in the YAP1 gene, which are associated with ocular coloboma, hearing impairment, cleft lip/palate, and intellectual disability. The test provides a definitive molecular diagnosis essential for early intervention and genetic counseling. It is performed at our DHA-licensed laboratory (Licence #1143) and adheres to stringent quality standards.
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (available daily 8 AM โ 11 PM) for standard blood samples.
- Clinical Guidance: Telephonic post-test clinical guidance from a DHA-licensed clinical geneticist.
- Price: 2,800 AED โ includes DNA extraction, full NGS analysis, genetic counseling, and a detailed medical report.
- Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This state-of-the-art NGS test sequences the entire YAP1 gene to identify pathogenic variants underlying ocular coloboma, frequently accompanied by hearing loss, cleft lip/palate, and intellectual disability. It provides a definitive molecular diagnosis crucial for early intervention and genetic counseling. The methodology includes Illumina NGS with ACMG variant interpretation, enabling detection of single nucleotide variants, insertions/deletions, and copy number variants.
| Feature | Our Test (YAP1 NGS โ UAE) | Standard Single-Gene Sequencing |
|---|---|---|
| Precision | Full gene coverage with >100x depth, detects SNVs, indels, CNVs | Often targets only known hotspots or exons |
| Methodology | Illumina NGS with ACMG variant interpretation | Sanger sequencing or limited panel |
| Turnaround Time | 3โ4 weeks with genetic counseling report | 4โ6 weeks, often without comprehensive counseling |
Physician Insight & Safety Protocols
โAs a clinical geneticist, I understand the profound impact of a genetic diagnosis on families. This YAP1 gene test uncovers critical molecular clues that guide multidisciplinary care. Results must always be interpreted within the context of the patientโs full clinical picture and family history. I am committed to supporting you through every step, from pre-test counseling to result disclosure.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Pre-Test Genetic Counseling
A detailed clinical history focusing on ocular, auditory, craniofacial, and developmental milestones is mandatory. A genetic counseling session is required to construct a pedigree chart of family members affected by YAP1-related conditions. Informed consent for genetic testing must be documented in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability and Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
Exclusion Criteria & Safety Precautions
Important Safety Information
- Exclusions: Acute medical emergencies; bleeding disorders or severe anemia prior to blood draw; active infection at venipuncture site; inability to provide informed consent for minors (mandatory parental/guardian consent per UAE regulations).
- Seek Emergency Care If: You experience severe bleeding, fainting, or signs of infection (e.g., redness, swelling, fever) after sample collection.
Do not discontinue any prescribed medication without consulting your physician. This genetic test does not replace ongoing clinical management.
Patient FAQ & Clinical Guidance
1. What is the YAP1 gene test and why is it important?
This NGS-based test detects pathogenic variants in the YAP1 gene, enabling early diagnosis of coloboma-related syndrome and guiding multidisciplinary management. Early molecular diagnosis helps tailor interventions for vision, hearing, and developmental support.
2. How is the sample collected and what does the 2,800 AED cover?
A certified phlebotomist collects a small blood sample at your home between 8 AM and 11 PM through our VIP Mobile Phlebotomy service. The price includes DNA extraction, full NGS analysis, genetic counseling, and a detailed medical report.
3. When can I expect results and who interprets them?
Results are typically available in 3โ4 weeks and are interpreted by a DHA-licensed clinical geneticist, who will explain the findings during a telephonic consultation. A comprehensive written report is also provided.
UAE Regulatory & Data Privacy Adherence
This test is performed under DHA Facility License Number 1143 (Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE). We strictly comply with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ ensures your genetic data is securely processed and stored.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ governs electronic health information exchange.
- ISO 9001:2015 (Certificate No. INT/EGQ/2509DA/3139) โ quality management system for laboratory processes.
Corporate Lab Branding: DNA Labs UAE. For insurance or booking inquiries, contact us via WhatsApp at +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | YAP1 Gene Coloboma, Ocular, with or without Hearing Impairment, Cleft Lip/Palate, and/or Mental Retardation Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 weeks |
| Sample Type / Matrix | Whole Blood (Peripheral) โ VIP Mobile Phlebotomy available |
| Methodology Used | Next-Generation Sequencing (NGS) โ Illumina, full gene coverage, ACMG variant interpretation |
| ICD-10-CM Code | Q12.2, Q13.0, Q14.8 |
| LOINC Code | 82382-9 |
| DHA Facility License & Laboratory Address | License #1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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ISMS 27001:2022
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All reports reviewed by DHA-Certified physicians