Test Price
4,800 AEDโ Home Collection Available
Lysosomal Storage Disorder Gene Panel in UAE | Clinical NGS Diagnostic Test
Executive Summary & Core Metrics
Clinical-Grade NGS Panel โ 99.9% Diagnostic Sensitivity
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection for peripheral blood samples. Amniotic fluid and chorionic villi require hospital extraction.
- Clinical Guidance: Telephonic post-test clinical guidance for result interpretation and genetic counselling coordination.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
This comprehensive next-generation sequencing panel simultaneously analyzes genes associated with over 50 lysosomal enzyme deficiencies, enabling early prenatal, paediatric, and adult diagnosis. Validated under DHA molecular pathology standards, the test supports genetic counselling for hereditary metabolic conditions across the UAE.
Test Overview & Methodology
The Lysosomal Storage Disorder Gene Panel employs Next-Generation Sequencing (NGS) to detect pathogenic variants in genes linked to lysosomal storage diseases such as Gaucher, Fabry, Pompe, Niemann-Pick, and Mucopolysaccharidoses. Full gene coverage ensures high-resolution detection of single-nucleotide variants, insertions, deletions, and copy-number alterations across all coding exons and flanking intronic regions.
| Feature | Our NGS Gene Panel | Closest Alternative: Targeted Enzyme Assay |
|---|---|---|
| Precision | >99.9% sensitivity, full gene coverage | ~85% sensitivity, single enzyme measurement |
| Method | Illumina NovaSeq X Plus NGS | Fluorometric / immunocapture assay |
| Turnaround Time | 4โ6 weeks | 2โ3 weeks per enzyme |
Physician Insight & Safety Protocols
โThis gene panel offers a powerful molecular screening tool for suspected lysosomal storage disorders. However, definitive diagnosis requires integration with quantitative enzymatic assays and full clinical correlation. Patients and families should engage a qualified genetics specialist before making any therapeutic decisions based solely on DNA variant findings.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
Do Not Discontinue Prescribed Therapy Without Specialist Consultation
Genetic test results may influence enzyme replacement therapy or substrate reduction therapy. Always coordinate with your treating metabolic specialist before altering any medication regimen.
Exclusion Criteria & Emergency Red Flags
- Active severe infection or sepsis at time of sample collection.
- Patient undergoing chemotherapy that may compromise DNA quality.
- History of bone marrow transplant within 90 days (risk of donor DNA contamination).
- Seek immediate emergency care if experiencing: acute neurological regression, refractory seizures, or severe metabolic acidosis.
Patient FAQ & Clinical Guidance
1. What is the lysosomal storage disorder gene panel used for?
This panel identifies pathogenic variants in genes implicated in lysosomal storage diseases such as Gaucher, Fabry, Pompe, Niemann-Pick, and the mucopolysaccharidoses. It is indicated when clinical symptoms or biochemical markers suggest an inherited enzyme deficiency, enabling early intervention and informed family planning.
2. How is the sample collected and what is the turnaround time?
A certified phlebotomist collects 3โ5 mL of peripheral blood during a scheduled home visit. Alternatively, amniotic fluid or chorionic villi samples are obtained via hospital extraction. All specimens are transported in ISO-certified temperature-controlled containers to our central genomics laboratory in Dubai Healthcare City. Results are reported within 4โ6 weeks.
3. What genes are included in the panel?
The panel covers more than 50 genes associated with lysosomal enzyme deficiencies, including GBA, GLA, GAA, SMPD1, IDUA, SGSH, and many others. A complete gene list is available upon request from our clinical genetics team.
4. Is a doctorโs prescription required?
Yes, a valid prescription from a licensed physician is mandatory. Please submit your prescription via WhatsApp for rapid verification. Certain cases such as prenatal screening or surgical clearance may be exempt upon specialist review.
UAE Regulatory & Data Privacy Adherence
Data Protection & Clinical Governance
- All genetic data is processed in compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health information handling adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical safety and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | Lysosomal Storage Disorder Gene Panel |
| Price (AED) | 4,800 AED |
| Turnaround Time | 4โ6 weeks |
| Sample Type / Matrix | Peripheral Blood (3โ5 mL), Amniotic Fluid, or Chorionic Villi |
| Methodology Used | Next-Generation Sequencing (NGS) โ Illumina NovaSeq X Plus |
| ICD-10-CM Code | E75.6 |
| LOINC Code | 81321-5 |
| DHA Facility License & Address | License #1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
ุฏุนู ุซูุงุฆู ุงููุบุฉ ู ุชุงุญ
ุงูุชุญูู ู ู ุงูุชุบุทูุฉ ุงูุชุฃู ูููุฉ
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.
ุชููู ุนู ุงูุชุฎู ูู. ุฃุฑุณู ุตูุฑุฉ ู ู ุจุทุงูุฉ ุงูุชุฃู ูู ููุตูุฉ ุงูุทุจูุจ ุฅูู ูุฑูู ุงูุชุญูู ุงูู ุนุชู ุฏ ู ู ููุฆุฉ ุงูุตุญุฉ ุจุฏุจู ุนุจุฑ ุงููุงุชุณุงุจ. ุงุญุตู ุนูู ุชุญุฏูุซ ุงูุญุงูุฉ ูู ุฏูุงุฆู.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians