Test Price
2,800 AEDโ Home Collection Available
STT3A Gene Congenital Disorder of Glycosylation Type Iw Genetic Test in UAE | 2,800 AED | DHA-Licensed Molecular Diagnostics
Executive Summary & Core Metrics
Executive Summary
Accuracy Guarantee: 99.9% Diagnostic Sensitivity achieved through targeted Next-Generation Sequencing (NGS) with orthogonal Sanger confirmation, processed exclusively at our ISO 9001:2015 certified facility (Cert: INT/EGQ/2509DA/3139). Every STT3A variant call is validated against ClinVar, gnomAD, and the latest ACMG/AMP interpretation guidelines.
Premium Logistics: Paid hospital-grade home collection available daily from 8 AM to 11 PM across all seven Emirates via ISO-certified cold-chain transport. Our VIP mobile phlebotomy team ensures sample integrity from collection to accessioning using temperature-monitored FTA card or EDTA vacutainer protocols.
Clinical Guidance: Complimentary telephonic post-test clinical guidance session with a DHA-licensed Consultant Medical Genetics to support accurate result interpretation, variant classification understanding, and appropriate specialist referral coordination.
Insurance: Direct billing verification available via WhatsApp at +971 54 548 8731. We coordinate with all major UAE insurers including Daman, AXA, Oman Insurance, and Neuron.
Test Overview & Methodology
Clinical Overview & Diagnostic Positioning
The STT3A gene encodes the catalytic alpha subunit of the oligosaccharyltransferase (OST) complex, a critical enzyme responsible for en bloc transfer of the lipid-linked oligosaccharide precursor to nascent polypeptides during N-linked glycosylation within the endoplasmic reticulum. Pathogenic biallelic variants in STT3A cause Congenital Disorder of Glycosylation Type Iw (CDG-Iw), a severe autosomal recessive metabolic disorder characterized by global developmental delay, intellectual disability, hypotonia, coagulopathy, and multi-system organ involvement.
| Feature | Our STT3A Targeted NGS Test | Whole Exome Sequencing (WES) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity for STT3A-CDG Type Iw with >200x mean coverage depth | ~95% sensitivity; lower depth of coverage for GC-rich regions common in glycosylation genes |
| Methodology | Targeted NGS (Next-Generation Sequencing) with bidirectional Sanger confirmation of all pathogenic/likely pathogenic variants | Broad exome capture with limited variant confirmation; may miss deep intronic or regulatory variants |
| Turnaround Time | 3 to 4 Weeks | 6 to 12 Weeks (longer interpretation and confirmation cycles) |
| Cost (AED) | 2,800 AED | 4,500 – 6,500 AED |
| Pre-Test Genetic Counseling | Included — comprehensive pedigree analysis and consent per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability | Often billed separately or not provided |
| Post-Test Clinical Guidance | Complimentary telephonic session with DHA-licensed Consultant Medical Genetics | Typically requires separate specialist consultation |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh — DHA Registration ID: 9294403
Consultant Medical Genetics
"Genetic testing for STT3A-related Congenital Disorder of Glycosylation Type Iw requires meticulous variant interpretation and deep integration with the child's clinical phenotype. In my practice, I have seen how a precise molecular diagnosis opens the door to targeted surveillance for coagulopathy, hepatic dysfunction, and neurodevelopmental progression. Every identified variant must be assessed through the lens of transferrin isoform analysis and family segregation studies to ensure accurate classification. I advise all families to participate in comprehensive pre-test counseling so that the implications of carrier status, recurrence risk, and potential prenatal options are fully understood before testing begins."
Important Medication Advisory
Do not discontinue, adjust, or modify any prescribed medication without consulting your treating physician. STT3A-CDG Type Iw is a complex metabolic condition, and medication regimens including anti-epileptics, coagulation support, and nutritional supplementation are carefully calibrated to each patient's clinical status. Genetic testing results should inform, not replace, ongoing clinical management decisions.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria for Sample Collection
- Allogeneic bone marrow or stem cell transplant within the preceding 90 days (donor DNA may confound results).
- Recent packed red blood cell transfusion within 30 days.
- Active severe systemic infection with hemodynamic instability.
- Inability to obtain valid informed consent as per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability — parental or legal guardian consent is mandatory for all individuals under 18 years of age.
- Known maternal cell contamination in cord blood or neonatal samples.
Emergency Red Flags — Seek Immediate Medical Attention
- Uncontrolled or prolonged seizures (status epilepticus).
- Unexplained bruising, petechiae, or active bleeding suggestive of severe coagulopathy.
- Acute liver decompensation: jaundice, ascites, encephalopathy.
- Severe dehydration with electrolyte disturbances refractory to oral rehydration.
- Acute respiratory distress or stridor at rest.
- Hypoglycemic crisis unresponsive to oral glucose.
These red flags are provided for informational purposes and do not constitute emergency medical advice. In any acute situation, immediately contact your nearest emergency department or call 998 (UAE Ambulance).
Patient FAQ & Clinical Guidance
1. What is the STT3A gene and how does a pathogenic variant cause Congenital Disorder of Glycosylation Type Iw?
The STT3A gene encodes the catalytic alpha subunit of the oligosaccharyltransferase complex that is absolutely essential for normal N-linked protein glycosylation within the endoplasmic reticulum. Biallelic loss-of-function variants disrupt this fundamental cellular process leading to the multi-system manifestations of CDG Type Iw including severe neurodevelopmental impairment, coagulopathy due to under-glycosylated clotting factors, and hepatic dysfunction. Our targeted NGS test sequences all coding exons, exon-intron boundaries, and known regulatory regions of STT3A with greater than 200-fold average coverage depth, ensuring detection of single nucleotide variants, small insertions/deletions, and copy number variations. All identified variants are classified according to the latest ACMG/AMP joint consensus guidelines, and pathogenic or likely pathogenic findings are orthogonally confirmed by bidirectional Sanger sequencing before reporting.
2. Who should consider STT3A genetic testing in the UAE and what are the clinical indicators?
Infants and children presenting with unexplained global developmental delay, axial hypotonia, failure to thrive, abnormal coagulation profiles, and characteristic type 1 transferrin isoform pattern on serum analysis should undergo STT3A genetic testing for definitive molecular diagnosis of Congenital Disorder of Glycosylation Type Iw, particularly when there is consanguinity or a positive family history consistent with autosomal recessive inheritance. Testing is also indicated for at-risk siblings of a confirmed proband, for carrier screening in extended family members, and for prenatal diagnosis in subsequent pregnancies when both parental pathogenic variants have been identified. All testing in minors requires documented informed consent from both parents or the legal guardian, and results are released exclusively through a DHA-licensed Consultant Medical Genetics or referring physician.
3. How is the STT3A genetic test performed, what is the turnaround time, and how will I receive my results?
The STT3A genetic test is performed via a standard venous blood draw or a single drop of blood applied to an FTA card by our VIP mobile phlebotomy team during a scheduled home collection visit. The sample undergoes genomic DNA extraction, targeted NGS library preparation, high-depth sequencing on an Illumina platform, and comprehensive bioinformatic analysis with a final turnaround time of three to four weeks from sample accessioning to validated report issuance. Results are delivered exclusively through a secure, encrypted telephonic consultation with a DHA-licensed Consultant Medical Genetics who will explain the clinical significance of any identified variants, provide guidance on specialist referrals, and coordinate cascade testing for at-risk family members if indicated. A written report in English is provided, and all data is stored in compliance with UAE PDPL on DHA-approved secure servers.
UAE Regulatory & Data Privacy Adherence
Data Protection & Legal Compliance Framework
This genetic test is performed 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, ensuring the confidentiality, encryption, and secure storage of all patient genetic information. Our facility maintains ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and holds DHA Facility License No. 1143. All genetic data is processed and stored exclusively on UAE-based servers compliant with the Dubai Health Authority (DHA) and Ministry of Health and Prevention (MOHAP) data residency requirements. Clinical testing safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | STT3A Gene Congenital Disorder of Glycosylation Type Iw Genetic Test (Targeted NGS with Sanger Confirmation) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA tube, 3–5 mL), Extracted DNA (minimum 1 ยตg at ≥50 ng/ยตL), or One Drop of Blood on FTA Card (properly dried and sealed) |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) with bidirectional Sanger confirmation of all pathogenic/likely pathogenic variants; >200x mean coverage depth |
| ICD-10-CM Code | E77.8 (Other disorders of glycoprotein metabolism) |
| LOINC Code | 55233-1 (Genetic analysis of specific gene using molecular genetics method) |
| 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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