Test Price
2,800 AED✅ Home Collection Available
SIL1 Gene Cataract, Congenital, Associated with Marinesco-Sjögren Syndrome Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
This targeted genetic test delivers 99.9% diagnostic sensitivity for pathogenic SIL1 variants underlying Marinesco‑Sjögren syndrome (MSS) and associated congenital cataracts. The analysis is performed in an ISO‑accredited laboratory with dual‑confirmation through Sanger sequencing.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM – 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyzes the SIL1 gene for pathogenic variants causative of Marinesco‑Sjögren syndrome, an autosomal recessive disorder characterized by congenital cataracts, cerebellar ataxia, and myopathy. The assay targets all coding exons and intron‑exon boundaries, supplemented by Sanger confirmation to ensure >99.9% analytic sensitivity.
| Feature | Our Test | Closest Alternative (Multi-Gene Panel) |
|---|---|---|
| Precision | Single-gene NGS with Sanger confirm – >99.9% analytic sensitivity for SIL1 | Broad panel may miss rare non-coding variants or novel splice sites |
| Methodology | NGS (Illumina) + in-depth bioinformatics, targeted to SIL1 coding & intron-exon boundaries | Whole-exome or multi-gene NGS with lower depth in specific regions |
| Turnaround Time | 3–4 weeks with expedited notification for positive results | 6–12 weeks typical |
Physician Insight & Safety Protocols
“Genetic testing for SIL1 variants provides a definitive molecular diagnosis in the majority of MSS cases. However, a negative result does not exclude the possibility of deep intronic or regulatory variants. Integration of clinical findings and family history is crucial for accurate interpretation.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Advisory
Do not discontinue any prescribed medication without consulting your physician. The test itself does not interfere with ongoing treatments, but result interpretation should always be conducted under medical supervision.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Acute infection or recent blood transfusion (within 2 weeks) may delay sample collection; contact our laboratory for rescheduling.
- Emergency Red Flags: If the patient experiences sudden vision loss, severe headache with nausea, or acute neurological deterioration, seek immediate emergency care – do not wait for test results.
Patient FAQ & Clinical Guidance
1. How accurate is this SIL1 gene test for diagnosing Marinesco‑Sjögren syndrome?
Detecting over 99.9% of pathogenic SIL1 variants with NGS plus Sanger confirmation ensures the highest diagnostic yield for congenital cataract‑associated MSS. The comprehensive coverage of coding and splice regions minimizes false negatives.
2. What sample is required and how is collection performed?
A simple blood draw, one drop on an FTA card, or extracted DNA is acceptable. Our VIP phlebotomy team collects samples at your home using temperature‑controlled cold‑chain transport, 7 days a week from 8 AM to 11 PM.
3. Why does the test take 3 to 4 weeks for results?
Full NGS sequencing, bioinformatics interpretation, and dual‑review by molecular scientists and clinical geneticists ensure a robust report ready for your ophthalmologist or neurologist. Positive results are communicated earlier to facilitate timely clinical decisions.
4. Can a negative result completely rule out Marinesco‑Sjögren syndrome?
No. Rare deep intronic, promoter, or mosaic variants may not be detected by standard NGS. A negative result should be interpreted in the context of clinical features and family history, and additional testing may be considered if suspicion remains high.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – secure handling of genetic and personal data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – electronic health record compliance.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – patient consent and safety standards for clinical testing.
- DHA Facility License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
- Laboratory accredited to international quality standards (ISO 15189 equivalent).
Clinical & Logistical Metadata
| Test Name | SIL1 Gene Cataract, Congenital, Associated with Marinesco-Sjögren Syndrome Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood, FTA card, or extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | H26.0 |
| LOINC Code | 82185-1 |
| DHA Facility License & Laboratory Address | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | License No. 1143 |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians