Test Price
2,800 AED✅ Home Collection Available
SKI Gene Shprintzen‑Goldberg Syndrome Genetic Test in UAE | 2800 AED | DHA Approved
DHA‑ApprovedExecutive Summary & Core Metrics
EXECUTIVE SUMMARY
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS Processing.
- Premium Logistics: Hospital‑Grade Home Collection (8 AM – 11 PM) with cold‑chain transport.
- Clinical Guidance: Post‑test telephone consultation with certified genetic counsellors for result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The SKI Gene Shprintzen‑Goldberg Syndrome Genetic Test is a definitive molecular assay that detects pathogenic variants in the SKI gene using Next‑Generation Sequencing (NGS). This test confirms the diagnosis of Shprintzen‑Goldberg syndrome (SGS), a rare connective tissue disorder characterized by craniofacial, skeletal, neurological and cardiovascular anomalies.
| Feature | Our Test (SKI Gene NGS) | Closest Alternative |
|---|---|---|
| Precision | Full gene sequencing with CNV detection, >99.9% sensitivity | Targeted mutation panels (limited coverage, ~85% sensitivity) |
| Method | Next‑Generation Sequencing (Illumina® platform, ISO‑certified) | Sanger sequencing of selected exons or single‑site assays |
| Turnaround | 3 to 4 Weeks (expedited reporting available) | Often 5–6 Weeks |
Physician Insight & Safety Protocols
“As a clinician, I know that waiting for a genetic diagnosis can be emotionally overwhelming. The SKI gene NGS test delivers a definitive molecular answer that allows families and their medical teams to plan comprehensive, multidisciplinary management from the very first days of life. Always remember that a positive result must be carefully correlated with the full clinical picture – no genetic test stands alone.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License: 9294403
Important Medication Advisory
Important Medication Warning
Do not discontinue any prescribed medication without consulting your physician. This genetic test is a diagnostic tool; treatment decisions – especially concerning cardiovascular medications or anticoagulants – must be directed by your specialist.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Individuals with hemodynamic instability, acute febrile illness, or severe bleeding diathesis should postpone blood collection. Minors (<18 years) require informed consent from a legal guardian in compliance with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ER Red Flags: If you develop sudden, severe chest or back pain, profound difficulty breathing, or symptoms of stroke at any time, seek emergency care immediately. These may indicate aortic dissection or other life-threatening connective tissue emergencies.
- Test Limitations: This assay does not replace clinical surveillance; a negative result does not exclude other genetic disorders.
Patient FAQ & Clinical Guidance
1. What does the SKI gene NGS test detect and why is it ordered?
The assay sequences the entire coding region of the SKI gene to identify pathogenic variants responsible for Shprintzen‑Goldberg syndrome, a condition marked by craniosynostosis, skeletal dysplasia, and aortic root dilation.
2. How accurate is this test and how does home collection work in Dubai?
With a validated diagnostic sensitivity exceeding 99.9% and full analytical validation per ISO 9001:2015 standards, a trained phlebotomist arrives at your location between 8 AM and 11 PM to collect a blood sample, which is immediately refrigerated and transported to our central lab for processing.
3. Will my insurance cover the 2800 AED cost and what does the report include?
Many UAE insurers cover this when pre‑authorized; our team verifies your coverage within hours via WhatsApp, and the final report includes a detailed variant interpretation, clinical correlation guidance, and reference to DHA molecular pathology standards.
UAE Regulatory & Data Privacy Adherence
Your data is protected under stringent UAE federal laws.
- Data Privacy: Fully compliant with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information: Adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Medical Liability: Patient consent and safety protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Certification: ISO 9001:2015 Certified Facility (Cert. INT/EGQ/2509DA/3139). Licensed by MOHAP/DHA.
Clinical & Logistical Metadata
| Test Name | SKI Gene Shprintzen‑Goldberg Syndrome Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks (expedited reporting available) |
| Sample Type / Matrix | Peripheral Whole Blood |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full Gene Sequencing with CNV Detection |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 21636-6 |
| DHA Facility & Address | License No: 1143 | 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
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All reports reviewed by DHA-Certified physicians