Test Price
9,100 AEDโ Home Collection Available
Whole Exome Sequencing Trio Test โ 9,100 AED | DNA Labs UAE
Executive Summary & Core Metrics
Test Name: Whole Exome Sequencing Trio (Proband + Both Parents)
Price: 9,100 AED
Turnaround Time: 6 Weeks
Diagnostic Yield: Up to 35โ40% in undiagnosed genetic disorders, with high sensitivity for de novo and recessive variants
This trio analysis examines the exome of the affected child alongside both biological parents, enabling precise segregation analysis and confirmation of inheritance patterns. Clinical interpretation is led by a Consultant Medical Geneticist with post-test genetic counseling and telephonic result discussion included. Mobile phlebotomy and cold-chain sample transport are available daily from 8 AM to 11 PM across Dubai and the Northern Emirates.
Test Overview & Methodology
Whole Exome Sequencing Trio simultaneously captures and sequences the protein-coding regions of approximately 20,000 genes from the proband and both parents using next-generation sequencing (NGS) technology. The trio design allows direct comparison of variant inheritance patterns, dramatically improving the detection rate of de novo mutations, autosomal recessive disorders, and X-linked conditions compared to proband-only sequencing. Each variant is classified according to ACMG/AMP guidelines and correlated with the presenting phenotype.
The bioinformatics pipeline includes paired-end alignment, variant calling, annotation, and trio segregation analysis. All clinically significant findings are reviewed by a Board-certified molecular geneticist before release. A confirmatory Sanger sequencing step is performed for all reported pathogenic and likely pathogenic variants.
| Feature | Trio WES (This Test) | Proband-Only WES (Alternative) |
|---|---|---|
| Subjects Analyzed | Proband + both biological parents | Affected individual only |
| Diagnostic Yield | 35โ40% in complex undiagnosed cases | ~25โ30% with limited segregation data |
| De Novo Detection | Confirmed directly via parental comparison | Inferred only; requires follow-up testing |
| Recessive Carrier Status | Identified in parents simultaneously | Not assessable; separate parental tests needed |
| Turnaround Time | 6 Weeks | 6โ8 Weeks |
| Price | 9,100 AED | ~6,500โ7,500 AED (proband only) |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
"Whole exome sequencing trio analysis is one of the most powerful tools available for solving complex diagnostic odysseys in pediatric and adult genetics. The ability to phase variants and observe segregation patterns in real time within the family unit substantially reduces the number of variants of uncertain significance and accelerates definitive diagnosis. Every result must be contextualized against the full clinical phenotype, and families should receive pre-test and post-test genetic counseling to fully understand implications for recurrence risk and family planning. I recommend that all patients discuss the findings with their referring physician and a qualified genetic counselor before acting on any result."
Medication Advisory
Do not discontinue, initiate, or alter any prescribed medication or therapeutic regimen based solely on a genetic test result without explicit consultation with your treating physician. Genetic variants indicate predisposition or diagnostic information; they do not replace clinical judgment or established treatment protocols.
Exclusion Criteria & Red Flags
Exclusion Criteria:
- This test is not validated for somatic mutation profiling in malignancies, circulating tumor DNA analysis, or prenatal diagnosis without prior genetic counseling.
- Individuals under 18 years require written informed consent from a parent or legal guardian, in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- The test is not intended for pharmacogenomic evaluation of specific drug-metabolizing enzymes unless explicitly requested and added as a supplemental analysis.
Red Flags โ Seek Immediate Medical Attention:
If the proband or a family member experiences new-onset seizures, acute neurological deterioration, loss of consciousness, unexplained bleeding, or any symptom requiring urgent evaluation, proceed to the nearest emergency department immediately. Genetic testing results must never delay emergency clinical care.
Patient FAQ & Clinical Guidance
1. What is whole exome sequencing trio and why is it performed?
Whole exome sequencing trio analyzes the exomeโthe protein-coding portion of the genomeโof the affected child and both biological parents simultaneously. This approach is indicated when a genetic disorder is suspected but the causative variant has not been identified through targeted panels. By comparing the child's variants against parental DNA, clinicians can distinguish inherited mutations from new (de novo) changes and determine carrier status. It is the standard of care for undiagnosed neurodevelopmental disorders, multiple congenital anomalies, unexplained metabolic syndromes, and suspected mitochondrial diseases.
2. How is the sample collected and what logistics are involved?
A standard blood draw (3โ5 mL in EDTA tubes) is required from the proband and both parents. DNA Labs UAE offers VIP mobile phlebotomy with temperature-controlled cold-chain transport from 8 AM to 11 PM daily, including weekends. The phlebotomist arrives at your home or workplace, collects all three samples in a single visit, and transports them directly to our ISO 9001:2015 certified laboratory. Results are delivered securely via digital report within 6 weeks of sample receipt.
3. Is the test covered by insurance and what is the total cost?
The total cost is 9,100 AED for the complete trio analysis, including DNA extraction, library preparation, sequencing, bioinformatic analysis, variant interpretation, and a comprehensive clinical report. DNA Labs UAE provides free insurance verification and direct billing support via WhatsApp at +971 54 548 8731. Many UAE health insurers reimburse whole exome sequencing when medically indicated with a physician referral. Submit your insurance card copy through WhatsApp and our billing team will confirm coverage prior to sample collection.
4. What happens after the results are ready?
A secure digital report is released to you and your referring physician within 6 weeks. The report details all pathogenic and likely pathogenic variants, inheritance patterns, and clinical correlations. A telephonic post-test result interpretation session with a genetic counselor is included at no additional charge. Follow-up recommendations may include confirmatory testing for at-risk family members, referral to a specialist, or reproductive genetic counseling. All data is handled in compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection.
UAE Regulatory & Data Privacy Adherence
Data Protection: All genetic data is processed and stored in full compliance 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. Patient genetic information is encrypted at rest and in transit, access-controlled, and never shared with third parties without explicit written consent.
Clinical Safety & Consent: Sample collection, genetic testing, and result disclosure adhere to the standards set by Federal Decree-Law No. 4 of 2016 on Medical Liability. Informed consent is obtained from all participants before sample collection, and minors require parental or legal guardian consent.
Quality Management: DNA Labs UAE operates under ISO 9001:2015 certified quality management and is licensed by the Dubai Health Authority (DHA Facility License Number: 1143). All laboratory procedures follow established standard operating procedures with regular internal and external quality audits.
Clinical & Logistical Metadata
| Test Name | Whole Exome Sequencing Trio (Proband + Both Parents) |
| Price (AED) | 9,100 AED |
| Turnaround Time | 6 Weeks |
| Sample Type / Matrix | Whole blood (EDTA) โ peripheral venous draw from proband and both parents; VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Next Generation Sequencing (NGS) โ Whole Exome Sequencing with trio segregation analysis; confirmatory Sanger sequencing for reported variants |
| ICD-10-CM Code | Z13.79, Z84.81, Z15.89 |
| LOINC Code | 93882-7 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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