Test Price
550 AED✅ Home Collection Available
GM2 Gangliosidosis Quantitative Blood Test (Tay-Sachs & Sandhoff Disease) — 550 AED | DHA-Licensed Laboratory Dubai
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139). Quantitative fluorometric hexosaminidase A and total hexosaminidase enzyme assay with 4-MUG substrate — the gold-standard biochemical method for confirming GM2 gangliosidosis.
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all seven Emirates — Dubai, Abu Dhabi, Sharjah, Ajman, Ras Al Khaimah, Fujairah, and Umm Al Quwain.
- ✓ Clinical Guidance: Complimentary telephonic post-test result interpretation by DHA-credentialed clinical genetics specialists. Final report delivered within 4 working days via secure electronic portal.
- ✓ Insurance: Direct billing verification via WhatsApp at +971 54 548 8731. Coverage confirmed for major UAE insurers including Daman, AXA Gulf, Oman Insurance, and Neuron.
Test Overview & Methodology
The GM2 Gangliosidosis Quantitative Blood Test is a definitive biochemical assay that measures hexosaminidase A and total hexosaminidase enzyme activity in whole blood to diagnose or rule out Tay-Sachs disease and Sandhoff disease — two severe, autosomal recessive lysosomal storage disorders that cause progressive neurodegeneration. This test is essential for symptomatic infants and children presenting with developmental regression, exaggerated startle response, cherry-red macular spots, and hypotonia, as well as for at-risk couples planning pregnancy in the UAE's genetically diverse population.
| Feature | Our Test — Enzyme Assay (Gold Standard) | Genetic Sequencing (HEXA/HEXB) | Newborn Screening (DBS) |
|---|---|---|---|
| Methodology | Quantitative Fluorometric Enzyme Assay (4-MUG substrate) — LC-MS/MS validated | Next-Generation Sequencing / Sanger confirmation | Semi-quantitative fluorometric assay on dried blood spot |
| Diagnostic Precision | 99.9% Sensitivity — directly measures enzyme deficiency | ~95% detection rate; may miss novel variants | Screening only — requires confirmation; false positives possible |
| Turnaround Time | 4 Days (Sample by 4 PM daily) | 14–21 Days | 7–10 Days (incl. confirmation) |
| Price in UAE | 550 AED | 2,500–4,500 AED | 200–350 AED (screening only) |
| Best For | Confirmatory diagnosis, pre-symptomatic testing, carrier biochemical assessment | Carrier screening, prenatal diagnosis, atypical presentations | Population-wide newborn screening programs |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh — Consultant Medical Genetics | DHA Registration ID: 9294403
"The GM2 gangliosidosis quantitative blood test provides a direct enzymatic readout that is indispensable for distinguishing Tay-Sachs from Sandhoff disease. I always stress that a severe reduction in hexosaminidase A activity must be interpreted alongside the patient's neurological progression, family pedigree, and ophthalmologic findings. Enzyme results alone do not define prognosis — they are one component of a comprehensive diagnostic workup that includes genetic counseling and multidisciplinary metabolic care."
Advisory — Medication & Clinical Precautions
⚠ Medication Continuation Notice: Maintain all prescribed therapies including anti-epileptic drugs, enzyme replacement therapies, and supportive care medications as directed by your specialist. This diagnostic test does not replace ongoing clinical management. Do not alter or discontinue any treatment regimen without consulting your treating physician.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria — Do Not Proceed If:
- Patient has received a packed red blood cell transfusion within the last 90 days (may yield falsely normal enzyme levels from donor leukocytes).
- Patient is currently on enzyme replacement therapy (ERT) — discuss timing with your metabolic specialist.
- Sample is clotted, hemolyzed, or frozen — DO NOT FREEZE whole blood specimens; freezing destroys leukocyte enzyme activity.
- Clinical details are missing — specimen will be rejected per DHA/MOHAP laboratory standards.
- Insufficient volume: less than 7.5 mL total across 3 tubes.
Emergency Red Flags — Seek Immediate Medical Attention:
- Infant or child exhibiting acute neurological deterioration, prolonged seizures, or loss of consciousness.
- Sudden onset of respiratory distress or aspiration in a child with known or suspected GM2 gangliosidosis.
- Cherry-red macular spot with rapid vision loss — urgent ophthalmology and neurology referral indicated.
- Any suspicion of non-accidental injury or metabolic crisis — proceed directly to the nearest emergency department.
Patient FAQ & Clinical Guidance
1. What does the GM2 gangliosidosis quantitative blood test measure, and who should be tested?
This test quantitatively measures hexosaminidase A and total hexosaminidase enzyme activity in whole blood to definitively diagnose Tay-Sachs and Sandhoff disease. Testing is indicated for infants and children with developmental regression, exaggerated startle response, cherry-red spots on retinal exam, progressive muscle weakness, or macrocephaly. Adults with late-onset forms presenting with muscle atrophy, psychiatric symptoms, or cerebellar ataxia should also be evaluated. Carrier testing for at-risk couples of Ashkenazi Jewish, French-Canadian, Cajun, or Irish descent is clinically available, though physician-directed testing based on clinical suspicion remains the primary pathway in the UAE's diverse population.
2. How is the blood sample collected, and what is the turnaround time in the UAE?
A total of 10 mL of whole blood is drawn across three lavender-top EDTA or green-top sodium heparin tubes via standard venipuncture. Our DHA-licensed mobile phlebotomy team provides hospital-grade home collection across all seven Emirates from 8 AM to 11 PM daily, with specimens transported under refrigerated cold-chain conditions (2°C–8°C) directly to our ISO-certified laboratory. Samples must never be frozen — freezing irreversibly destroys leukocyte enzyme activity. Samples received by 4 PM are processed the same day, with the final report delivered within 4 working days via secure electronic portal, accompanied by optional telephonic interpretation by our clinical genetics team.
3. What do abnormal or low enzyme activity results indicate for my child's health?
Abnormally low or absent hexosaminidase A activity confirms Tay-Sachs disease, while deficiency of both hexosaminidase A and B confirms Sandhoff disease. Both are autosomal recessive conditions: each parent is an obligate carrier, and each future pregnancy carries a 25% risk of an affected child. A confirmed diagnosis requires immediate referral to a multidisciplinary metabolic team including pediatric neurology, clinical genetics, ophthalmology, and palliative care. Although no curative treatment currently exists, early diagnosis enables optimized supportive care, seizure management, nutritional support, and access to clinical trials. Genetic counseling for the family is essential to discuss reproductive options including preimplantation genetic diagnosis (PGD) and prenatal testing for future pregnancies. Our clinical consultants guide families through every step with evidence-based clarity and compassion.
UAE Regulatory & Data Privacy Adherence
This laboratory service operates 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. All patient data is processed under strict UAE healthcare data sovereignty requirements. 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 Lab Branding: DNA Labs UAE. ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). Laboratory methodology validated against DHA/MOHAP Standard Nomenclature for Lysosomal Storage Disorders. This page is clinically reviewed and verified by Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403).
Clinical & Logistical Metadata
| Test Name | GM2 Gangliosidosis Quantitative Blood Test (Tay-Sachs & Sandhoff Disease) |
| Price (AED) | 550 AED |
| Turnaround Time | 4 Working Days (sample cut-off: 4 PM daily) |
| Sample Type / Matrix | Whole Blood (10 mL across 3 lavender-top EDTA or green-top sodium heparin tubes) |
| Methodology Used | Quantitative Fluorometric Enzyme Assay (4-MUG substrate) — LC-MS/MS validated |
| ICD-10-CM Code | E75.00 (GM2 Gangliosidosis, Unspecified) | E75.01 (Tay-Sachs Disease) | E75.02 (Sandhoff Disease) | Z14.8 (Genetic Susceptibility/Carrier Status) |
| LOINC Code | 24066-2 — Hexosaminidase A [Enzymatic Activity/Mass] in Blood |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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