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Test Price

2,800 AED

✅ Home Collection Available

ALPL Gene Hypophosphatasia (Childhood-Onset) Genetic Test in UAE | AED 2800 | DHA Licensed

Executive Summary & Core Metrics

  • Diagnostic Accuracy: 99.9% analytical sensitivity via ISO 9001:2015 accredited NGS platform targeting the entire ALPL gene.
  • Home Collection: VIP mobile phlebotomy with temperature-controlled cold-chain transport, daily 8 AM – 11 PM across all emirates.
  • Post-Test Guidance: Complimentary telephonic clinical correlation with a DHA-licensed consultant medical geneticist.
  • Insurance: Direct billing support – quick verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The ALPL gene NGS test detects pathogenic variants in the ALPL gene causing childhood-onset hypophosphatasia, a rare metabolic bone disease characterized by low alkaline phosphatase. The assay uses next-generation sequencing (Illumina®) with full bioinformatics pipeline, covering all coding exons, flanking intronic regions, and copy number analysis.

Parameter Our NGS Test (ALPL Whole Gene) Alternative (Sanger Sequencing)
Technology Next‑Generation Sequencing (Illumina®) with full bioinformatics pipeline PCR‑based Sanger sequencing of individual exons
Sensitivity >99.9% for single nucleotide variants, indels, and copy number changes ~95% in targeted regions; missed deep intronic and large rearrangements
Turnaround Time 3 – 4 Weeks 4 – 6 Weeks
Regulatory Status DHA‑licensed lab, ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) Often foreign reference labs without local UAE accreditation

Physician Insight & Safety Protocols

“ALPL gene testing for childhood-onset hypophosphatasia must be interpreted in the context of clinical symptoms, low serum alkaline phosphatase, and radiographic findings. A negative NGS result does not exclude the diagnosis; careful pediatric follow-up with a metabolic specialist remains essential. Genetic counselling should be offered to all families, and parental consent is mandatory for minors under UAE law.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Advisory: Do Not Discontinue Medication

⚠️ Important: Do not stop any prescribed treatments (e.g., asfotase alfa) without consulting your treating physician. This test is a diagnostic tool and does not replace active medical management. Sudden therapy cessation can lead to rapid deterioration.

Exclusion Criteria & Emergency Red Flags

  • Exclusion Criteria: Inability to provide informed consent, insufficient blood volume, or non‑viable FTA card sample.
  • Paediatric Safeguard: For minors, a pre‑test genetic counselling session and legal guardian consent are mandatory as per UAE law.
  • Sample Interference: Recent blood transfusion (<2 weeks) or active severe infection (fever >38.5°C) may compromise DNA integrity – reschedule if unsure.
  • 🚨 Emergency Red Flags: If the child develops acute chest pain, sudden breathing difficulty, severe bone pain, or pathologic fracture, seek emergency care immediately – this test is not for acute crisis management.

Patient FAQ & Clinical Guidance

1. How sensitive is this NGS test for hypophosphatasia?

This whole‑gene NGS assay achieves 99.9% diagnostic sensitivity for ALPL pathogenic variants, encompassing missense, nonsense, splice‑site, and copy number changes, confirming its role as the definitive molecular standard for hypophosphatasia diagnosis.

2. What sample is required and how is it collected?

A simple blood draw (3–5 mL EDTA tube) or a single drop on an FTA card is sufficient. Our DHA‑certified mobile phlebotomy team visits your home between 8 AM and 11 PM for a comfortable, cold‑chain compliant collection.

3. Is genetic counselling included with the test?

A mandatory pre‑test genetic counselling session is provided to draw the family pedigree, explain inheritance risks, and ensure fully informed consent in line with UAE Federal Decree‑Law No. 4 of 2016 on Medical Liability and Federal Law No. 2 of 2019 concerning ICT in health.

4. How long does it take to get results?

Turnaround time is 3 to 4 weeks from sample receipt. Results are delivered via a secure patient portal and followed by a telephonic review with our genetic counsellor.

UAE Regulatory & Data Privacy Adherence

This test is performed 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 genetic data is encrypted, stored on UAE‑based servers, and never shared without explicit consent. The laboratory holds DHA Facility License Number 1143 and is ISO 9001:2015 certified.

Clinical & Logistical Metadata

Test Name ALPL Gene Hypophosphatasia (Childhood-Onset) Genetic Test
Price (AED) 2,800
Turnaround Time 3 – 4 Weeks
Sample Type / Matrix Peripheral blood (3–5 mL EDTA) or FTA card; VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM
Methodology Used Next‑Generation Sequencing (Illumina®) – whole gene coverage, CNV detection
ICD-10-CM Code E83.39 (Disorders of phosphorus metabolism, other)
LOINC Code 83238-2 (ALPL gene mutation analysis)
DHA Facility License & Laboratory Address DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE

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