Test Price
2,800 AEDโ Home Collection Available
GLB1 Gene GM1-Gangliosidosis Type 2 Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Executive Summary: Next Generation Sequencing (NGS) test for the GLB1 gene to detect GM1-gangliosidosis type 2 โ a rare autosomal recessive lysosomal storage disorder. 99.9% diagnostic sensitivity delivered through an ISO 9001:2015 certified laboratory. The package includes VIP mobile phlebotomy with temperature-controlled cold-chain transport, a mandatory pre-test genetic counselling session, post-test telemedicine consultation for result interpretation, and direct insurance coverage verification.
- Diagnostic Accuracy: 99.9% sensitivity via ISO 9001:2015 validated NGS workflow with full gene coverage including deep intronic regions and CNV analysis.
- Premium Logistics: Hospital-grade mobile phlebotomy with certified cold-chain transport and VIP nursing team available daily from 8 AM to 11 PM.
- Clinical Counselling: Mandatory pre-test genetic counselling session to construct a three-generation pedigree chart, followed by a post-test physician teleconsultation.
- Insurance Facilitation: Direct billing verification via WhatsApp: +971 54 548 8731.
Test Overview & Methodology
The GLB1 Gene GM1-Gangliosidosis Type 2 Genetic Test employs next-generation sequencing to identify pathogenic variants in the GLB1 gene, which encodes the lysosomal enzyme beta-galactosidase. Deficiency of this enzyme leads to accumulation of GM1 gangliosides, particularly in neuronal tissues, resulting in progressive neurodegeneration, skeletal abnormalities, and coarse facial features. This test is indicated for individuals presenting with juvenile-onset neurodevelopmental regression, those with a family history consistent with lysosomal storage disorders, and individuals seeking carrier status clarification.
A pre-test genetic counselling session is mandatory prior to sample collection. During this session, a detailed three-generation pedigree chart is constructed to document affected and at-risk family members, establish appropriate clinical context, and obtain written informed consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
| Parameter | Our Test โ GLB1 NGS (UAE) | Closest Alternative โ Biochemical Enzyme Assay |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity โ Full gene coverage including deep intronic regions and CNV detection | ~85% Sensitivity โ Limited to enzymatic activity measurement; unable to detect heterozygous carriers |
| Methodology | NGS (Next Generation Sequencing) with bioinformatic CNV analysis pipeline | Fluorometric enzyme assay using leukocytes or cultured fibroblasts |
| Turnaround Time | 3 to 4 Weeks from sample receipt | 2 to 6 Weeks โ often requires referral to a specialized metabolic laboratory |
| Clinical Utility | Definitive genotypic diagnosis; carrier detection; prenatal applicability with appropriate counselling | Biochemical phenotype confirmation only; no variant-level data for recurrence risk assessment |
Physician Insight & Safety Protocols
Clinical Note from Consultant Medical Genetics Lina Osama Zaki Quteineh (DHA Registration ID: 9294403):
"This NGS-based GLB1 gene test provides definitive genotypic confirmation for GM1-gangliosidosis type 2, yet its interpretation must always be anchored to the complete clinical presentation โ neurodevelopmental regression, dysostosis multiplex, and corneal clouding are hallmark findings. A negative sequencing result does not definitively exclude the diagnosis if clinical suspicion remains elevated; I recommend orthogonal biochemical enzyme correlation and neurological evaluation prior to making irreversible therapeutic or reproductive decisions."
Clinical Advisory & Medication Safety
Do not alter or discontinue any prescribed therapy โ including anticonvulsants, muscle relaxants, nutritional supplements, or enzyme replacement regimens โ without explicit guidance from the managing physician. Genetic test results provide diagnostic clarity but do not replace clinical judgment or pharmacological stewardship. Abrupt cessation of supportive medications in metabolic disorders may precipitate acute neurological or metabolic decompensation requiring emergency intervention.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Do Not Proceed With Test If):
- Patient is a minor and legal guardian consent cannot be verified in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability
- Inadequate sample integrity โ hemolyzed, clotted, or insufficient whole blood specimen
- Incomplete pre-test genetic counselling session and unsigned informed consent documentation
- Blood transfusion within the preceding two weeks potentially confounding germline DNA analysis
Emergency Red Flags โ Seek Immediate Medical Attention If:
- Progressive loss of previously acquired motor milestones or sudden onset of refractory seizures
- Acute respiratory distress, aspiration pneumonitis, or unexplained stridor
- Unexplained lethargy, axial hypotonia, or failure to thrive in a pediatric patient
- Signs suggestive of increased intracranial pressure (persistent vomiting, irritability, sunsetting eye sign)
Patient FAQ & Clinical Guidance
1. What does the GLB1 gene NGS test diagnose, and who should consider it?
This test identifies pathogenic variants in the GLB1 gene that cause GM1-gangliosidosis type 2, a juvenile-onset lysosomal storage disorder characterized by progressive neurodegeneration, skeletal dysplasia, and coarse facial features. Indications include unexplained neurodevelopmental regression in childhood, a documented family history of metabolic storage disorders, or a request for carrier status clarification after thorough genetic counselling.
2. How does NGS technology compare to traditional enzyme testing for GM1-gangliosidosis?
NGS delivers 99.9% diagnostic sensitivity by sequencing the complete GLB1 coding region, splice sites, and deep intronic regulatory elements, while simultaneously detecting copy number variations that biochemical enzyme assays cannot resolve. Enzyme testing quantifies residual beta-galactosidase activity but cannot distinguish between variant subtypes or identify heterozygous carriers. NGS provides the definitive molecular diagnosis required for accurate prognosis, cascade family screening, and reproductive risk assessment.
3. Is the GLB1 genetic test covered by UAE health insurance plans?
Coverage for molecular genetic testing in the UAE depends on your insurance policy's specific provisions for hereditary disease diagnosis and specialized diagnostics. Our team provides direct billing verification via WhatsApp at +971 54 548 8731 โ simply share your insurance card details, and we confirm your coverage status before any sample collection or testing commences.
4. What sample is required, and how should I prepare for the blood draw?
A standard peripheral whole blood sample (3โ5 mL in an EDTA tube) is required. No fasting is necessary. A pre-test genetic counselling session must be completed prior to collection. Our VIP mobile phlebotomy team can visit your home between 8 AM and 11 PM daily, using ISO-certified cold-chain transport to ensure specimen integrity from draw to laboratory receipt.
5. How long does it take to receive results, and how are they delivered?
The standard turnaround time is 3 to 4 weeks from sample receipt at the laboratory. Results are reviewed and signed off by a Consultant Medical Genetics specialist, and a post-test telemedicine consultation is scheduled to explain the findings, their clinical implications, and any recommended next steps for management or family screening.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Health Information Governance: All genetic data generated by this test is processed, stored, and transmitted in strict 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. Patient genomic information is encrypted, access-controlled, and retained only for the clinically justified duration. No genetic data is shared with third parties without explicit written consent. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- DHA Facility License: 1143
- Laboratory Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
- Corporate Entity: DNA Labs UAE
- ISO Certification: ISO 9001:2015 โ INT/EGQ/2509DA/3139
Clinical & Logistical Metadata
| Test Name | GLB1 Gene GM1-Gangliosidosis Type 2 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks from sample receipt |
| Sample Type / Matrix | Whole Blood (EDTA, 3โ5 mL), Extracted DNA (minimum 2 ยตg, A260/A280 1.8โ2.0), or FTA Card specimen โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM โ 11 PM |
| Methodology Used | Next Generation Sequencing (NGS) with CNV detection and bioinformatic variant annotation |
| ICD-10-CM Code | E75.19, Z14.8, Z13.79 |
| LOINC Code | 101655-8 |
| DHA Facility License & Laboratory Address | License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians