Test Price
2,800 AED✅ Home Collection Available
PIK3R1 Gene SHORT Syndrome Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
This next-generation sequencing test for the PIK3R1 gene provides a definitive molecular diagnosis for SHORT syndrome (short stature, hyperextensibility, hernias, ocular depression, Rieger anomaly, delayed teething) with 99.9% analytical sensitivity. The assay includes full coding region sequencing with intronic boundary coverage, Sanger validation of all clinically significant variants, and a complimentary pre-test genetic counselling session to build a familial pedigree. All processes are ISO 9001:2015 certified and compliant with UAE data privacy regulations.
Test Overview & Methodology
The PIK3R1 Gene SHORT Syndrome Genetic Test employs next-generation sequencing (Illumina platform) to analyze all coding exons and flanking intronic regions of the PIK3R1 gene. Any pathogenic, likely pathogenic, or variant of uncertain significance (VUS) is confirmed by Sanger sequencing. The test delivers a clinical report with detailed annotations, including pharmacogenomic insights when relevant, and a recurrence risk assessment for family planning.
| Feature | Our Test (NGS Full Gene Sequencing) | Closest Alternative (Sanger Single-Exon) |
|---|---|---|
| Precision | 99.9% sensitivity, full coding + intronic boundaries | ~95% sensitivity, only targeted exons |
| Method | Illumina NGS with Sanger validation | Sanger sequencing of pre-selected regions |
| Turnaround | 3–4 Weeks | 6–8 Weeks (batch-dependent) |
| Report | Clinical annotation with pharmacogenomic insights | Binary result only |
Physician Insight & Safety Protocols
“Every genetic result must be interpreted within the broader clinical picture. I always advise families that a negative result does not entirely exclude the syndrome, while a positive finding opens a pathway to targeted surveillance and anticipatory care. Your child’s unique story remains the most important guide.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory
Do not discontinue, adjust, or initiate any prescribed medication based on this test result alone without consulting your treating physician. Genetic findings must be correlated with clinical status and specialist guidance.
Safety & Exclusion Criteria
- Sample Rejection: Specimens collected from patients who received a hematopoietic stem cell transplant within the last 6 months may yield donor-derived DNA – an alternative buccal swab is required.
- Consent Mandate: Written informed consent from the patient/legal guardian is obligatory; for minors, dual guardian authorization is required per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Acute Illness: If the patient experiences uncontrolled seizures, severe dehydration, acute respiratory distress, or suspected sepsis, postpone elective blood draw until stabilized.
- ER Red Flags: Seek emergency care immediately for syncope, altered consciousness, or severe pain during or after sample collection.
Patient FAQ & Clinical Guidance
1. How is the PIK3R1 DNA test performed and what sample is needed?
The test requires a single blood draw (3–5 mL in EDTA) or a dried blood spot on an FTA card; we then isolate DNA and sequence all coding regions of the PIK3R1 gene using NGS technology, with any suspicious variants confirmed by Sanger sequencing.
2. What does a positive result mean for my child’s health management?
A positive result confirms the molecular diagnosis of SHORT syndrome, enabling a personalized surveillance plan that includes regular cardiac, ophthalmologic, and growth assessments, and it guides the entire family regarding recurrence risk and future pregnancies.
3. Why does the test take 3–4 weeks – can it be faster?
Every NGS run includes library preparation, high-coverage sequencing, bioinformatic analysis, and Sanger confirmation of novel variants to ensure zero false-positives; this rigorous validation requires 3–4 weeks and cannot be safely shortened without risking accuracy.
UAE Regulatory & Data Privacy Adherence
DHA-Compliant Genetic Testing Facility – License 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. All genetic data are processed under 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, with encrypted storage and explicit informed consent. For minors, dual guardian authorization is required per Federal Decree-Law No. 4 of 2016 on Medical Liability.
Contact WhatsApp Support: +971 54 548 8731 – Home Collection Available 8 AM – 11 PM
Clinical & Logistical Metadata
| Test Name | PIK3R1 Gene SHORT Syndrome Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM) |
| Methodology Used | Next-Generation Sequencing (Illumina) with Sanger Validation |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 81266-9 |
| DHA Facility License & Laboratory Address | DHA License No: 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