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Test Price

2,800 AED

✅ Home Collection Available

HEXB Gene (GM2-Gangliosidosis Type 2) Next-Generation Sequencing DNA Test in UAE

Executive Summary & Core Metrics

• Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
• Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM – 11 PM, daily).
• Clinical Guidance: Post-Test Telephonic Clinical Correlation & Result Interpretation by a DHA-Licensed Consultant Medical Geneticist.
• Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731 (reply within 5 minutes).

Test Overview & Methodology

This advanced genetic test employs Next-Generation Sequencing (NGS) to analyze the entire HEXB gene, identifying pathogenic variants linked to GM2-gangliosidosis type 2 (Sandhoff disease) — a rare, autosomal recessive lysosomal storage disorder. The assay achieves greater than 100x median coverage across all exons and splice sites, detecting single nucleotide variants, small insertions/deletions, and copy number changes with a diagnostic yield exceeding 95%.

Feature Our Test – HEXB NGS (UAE) Closest Alternative
Methodology Full-gene Next-Generation Sequencing (coverage >100x, all exons & splice sites) Targeted SNP microarray (limited to known hot spots)
Precision Detects single nucleotide variants, small indels, and copy number changes – diagnostic yield >95% Only common Ashkenazi founder mutations; misses private or novel variants
Turnaround Time 3–4 Weeks (expedited reporting for urgent cases) 4–6 Weeks (often sent overseas, no local clinical support)
Reporting Clinically interpreted by DHA-licensed team; includes zygosity & ACMG classification Raw result without clinical correlation; requires additional geneticist interpretation

Physician Insight & Safety Protocols

Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) notes: "Every HEXB result must be interpreted alongside biochemical findings and clinical presentation. A negative NGS panel does not exclude rare deep intronic variants or complex structural rearrangements; genetic counseling remains essential for families navigating GM2-gangliosidosis type 2."

Important Medication & Therapy Advisory

Do not discontinue prescribed medication or enzyme replacement/investigational therapy without consulting your treating physician. This genetic test does not replace ongoing clinical management.

Exclusion Criteria & Emergency Red Flags

  • Neonate dried blood spot (DBS) cards older than 6 months – sample degradation may affect yield.
  • DNA extracted from non‑blood sources (e.g., saliva) requires quality check; low‑concentration samples accepted only with prior notification.
  • If the patient has received an allogeneic bone marrow transplant within the last 12 months, blood DNA may reflect donor genotype – notify the lab before collection.
  • ER Red Flags: Sudden loss of motor milestones, progressive hypotonia, or unexplained seizures in a child with known GM2 suspicion warrant immediate hospital evaluation; do not wait for genetic results.

Patient FAQ & Clinical Guidance

1. What does this test detect and how long does it take?

This NGS panel screens the entire HEXB gene for pathogenic mutations causing Sandhoff disease, with results ready in 3 to 4 weeks.

2. Is home sample collection available across the UAE?

Yes, our ISO-certified mobile phlebotomy team visits your home or office between 8 AM and 11 PM, ensuring cold-chain transport of your specimen to the laboratory.

3. How is my genetic data protected under UAE law?

All genetic information is secured under 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, with encrypted storage and strict access controls.

UAE Regulatory & Data Privacy Adherence

Data Privacy Framework

We fully comply 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 genetic test results are encrypted at rest and in transit, and are never shared with third parties without your explicit written consent.

Clinical Safety & Patient Consent

In accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability, we ensure each patient provides informed consent prior to testing, and all clinical procedures adhere to the highest standards of patient safety and medical accountability.

Clinical & Logistical Metadata

Test Name HEXB Gene (GM2-Gangliosidosis Type 2) Next-Generation Sequencing DNA Test
Price (AED) 2,800 AED
Turnaround Time 3–4 weeks
Sample Type / Matrix Peripheral Whole Blood (EDTA) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available
Methodology Used Next-Generation Sequencing (NGS) – full gene, >100x coverage, all exons & splice sites
ICD-10-CM Code E75.0
LOINC Code 94086-2
DHA Facility License & Laboratory Address License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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