Test Price
2,800 AED✅ Home Collection Available
SSR4 Gene X-Linked Congenital Disorder of Glycosylation (CDG) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Clinical Excellence & Trust Guarantees – DHA Licensed
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139), utilizing NGS on Illumina NovaSeq X Plus with bioinformatics validated to DHA standards.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection across all Emirates – 8 AM to 11 PM, 7 days a week.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation delivered by DHA-licensed genetic counsellors and specialist physicians.
- Insurance: Direct Billing Verification – WhatsApp +971 54 548 8731 to confirm coverage under your UAE health plan.
Test Overview & Methodology
This Next‑Generation Sequencing (NGS) test interrogates the entire SSR4 gene, detecting pathogenic single nucleotide variants, insertions, deletions, and copy number changes responsible for X‑linked congenital disorder of glycosylation type Iy. The test provides a definitive molecular diagnosis with 99.9% clinical sensitivity, enabling targeted management and family planning.
| Feature | Our SSR4 NGS Test | Closest Alternative – Whole Exome Sequencing (WES) |
|---|---|---|
| Precision & Coverage | 100% SSR4 coding exons ±20 bp splice sites; MLPA confirmation for CNVs | ~95% exome coverage; often misses deep intronic/copy number variants without separate assay |
| Clinical Sensitivity | >99.9% for all mutation types (point, indel, CNV) | ~98% for point changes, weaker for copy number |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks typical |
| Incidental Findings | None – targeted to SSR4 only | Frequent unrelated findings requiring additional consent and counselling |
| Cost (UAE) | 2800 AED | 4000 – 6000 AED (variable) |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I understand the profound impact a precise molecular diagnosis can have on families navigating congenital disorders of glycosylation. This targeted SSR4 test ends the diagnostic odyssey with high accuracy, guiding appropriate clinical management. However, test results must always be interpreted within the full clinical context and family history, and no therapeutic modifications should be made without direct consultation with the treating physician.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Medication Advisory
Do Not Discontinue Prescribed Therapies
Do not discontinue any prescribed anti‑epileptic, hormonal, or supportive therapy without consulting your doctor. Test results guide diagnosis but do not substitute for immediate clinical care.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Exclusion: Not to be used as a standalone prenatal test in an ongoing pregnancy without pre‑test genetic counselling and informed consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Exclusion: Testing of asymptomatic minors requires documented parental consent and genetic counselling, consistent with Federal Decree-Law No. 45 of 2021 on Personal Data Protection and Federal Law No. 2 of 2019 concerning Use of ICT in Health Fields.
- Red Flag: Seek emergency department care immediately if the patient develops new‑onset seizures, unexplained severe bleeding/bruising, or signs of acute liver failure (jaundice, coagulopathy) while awaiting results.
Patient FAQ & Clinical Guidance
1. What does the SSR4 gene test diagnose?
Our NGS test precisely detects SSR4 gene mutations responsible for X‑linked congenital disorder of glycosylation (CDG type Iy) with 99.9% accuracy. It clarifies the molecular cause behind symptoms such as global developmental delay, intractable seizures, failure to thrive, and coagulation abnormalities. The test differentiates CDG Iy from other glycosylation disorders, enabling targeted management and family planning.
2. How is the sample collected and what is the turnaround time?
A simple blood draw (3 mL EDTA tube) or a single-drop FTA card is collected by a DHA‑licensed phlebotomist at your home, with results in 3–4 weeks. We provide VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection from 8 AM to 11 PM across the UAE. Extracted DNA from a certified lab is also accepted. The sample is transported in ISO‑certified cold‑chain conditions directly to our DHA‑approved genomic facility.
3. Is genetic counselling mandatory before this test?
Yes, a pre‑test genetic counselling session is mandatory to draw a pedigree and obtain informed consent as required by Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 concerning Use of ICT in Health Fields. Our certified genetic counsellors will record a detailed family history of glycosylation disorders and explain potential outcomes, ensuring you are fully prepared for the implications of a confirmed diagnosis. The session can be conducted via secure telemedicine.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
This test and all associated processes are conducted in full compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – Ensuring confidentiality and security of genetic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – Governing digital health records and telemedicine.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – Safeguarding patient consent and clinical safety protocols.
Clinical & Logistical Metadata
| Test Name | SSR4 Gene Sequencing (X-Linked CDG Type Iy) |
| Price (AED) | 2800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (3 mL EDTA) or FTA Card |
| Methodology Used | Next‑Generation Sequencing (NGS) on Illumina NovaSeq X Plus with MLPA confirmation for CNVs |
| ICD-10-CM Code | E77.8 |
| LOINC Code | 91247-1 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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