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Test Price

2,800 AED

✅ Home Collection Available

ITK Gene Lymphoproliferative Syndrome Type 1 Genetic Test | 2800 AED | DHA Licensed Lab

Executive Summary & Core Metrics

Clinical Overview

This definitive Next‑Generation Sequencing (NGS) test analyzes the entire coding region of the ITK gene to detect pathogenic variants responsible for Lymphoproliferative Syndrome Type 1 (LPFS1). The assay provides a molecular diagnosis for patients with combined immunodeficiency and Epstein‑Barr virus (EBV)‑driven lymphoproliferation, enabling targeted immunomodulatory therapy.

  • Diagnostic Accuracy: 99.9% sensitivity via ISO‑accredited, CAP‑aligned processing.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
  • Clinical Guidance: Post‑test telephonic counselling with a DHA‑licensed genetic counsellor included.
  • Insurance & Billing: Direct insurance verification via WhatsApp +971 54 548 8731 — coverage confirmation in under 2 hours.

Compliance: Fully compliant with UAE Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL), Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, and Federal Decree‑Law No. 4 of 2016 on Medical Liability. All genetic counselling sessions adhere to DHA & MOHAP regulations.

Test Overview & Methodology

The test sequences the ITK gene using Illumina NGS technology to identify loss‑of‑function mutations that disrupt T‑cell signalling, leading to combined immunodeficiency and Epstein‑Barr virus (EBV)‑driven lymphoproliferation. Results empower hematologists, clinical immunologists, and oncologists to confirm a molecular diagnosis and tailor immune‑modulating therapies.

Feature Our NGS ITK Test Closest Alternative (Sanger Sequencing)
Gene Coverage Full coding exons + splice sites (±20 bp) Selected exons only
Analytical Sensitivity >99.9% (detects SNVs, indels, CNVs) ~95% (misses deep intronic variants)
Turnaround Time 3–4 Weeks 6–8 Weeks
Interpretation ACMG‑guided, multi‑disciplinary review Basic variant report
Genetic Counselling Pre‑ & post‑test session included Often not provided

Physician Insight & Safety Protocols

“As a Consultant Medical Geneticist, I recognize the emotional weight that accompanies testing for a rare immunodeficiency. While this NGS assay provides a powerful molecular window, a negative result does not completely exclude the condition if clinical suspicion remains high. Interpretation must always be integrated with immunological assays, EBV viral load, and family history. Our team is dedicated to guiding you through every result with clarity and compassion.”

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

Advisory Precautions: Pre‑Test Requirements

⚠ Safety Exclusion Criteria & Emergency Red Flags

  • Exclusion: Active severe systemic infection or hemodynamic instability that could compromise sample integrity or patient safety during home collection. Pause testing until clinical stabilisation.
  • Exclusion: Known hematocrit <25% (risk of insufficient DNA yield from blood spots) – consider extracted DNA alternative.
  • ER Red Flag: If you experience sudden massive lymph node enlargement, difficulty breathing, or high fever after the test (though the draw is minimally invasive), seek emergency care immediately – these symptoms may reflect underlying disease acceleration, not the test.

Pre‑Test Information & Sample Logistics

A detailed clinical history documenting lymphoproliferative symptoms and a mandatory genetic counselling session are required to construct a pedigree of family members affected by ITK gene mutations. The counselling can be conducted via secure telehealth before sample collection.

Accepted Sample Types: Whole Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card. Our phlebotomist will select the optimal matrix based on your clinical condition. Logistics follow VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection framework (Available daily from 8 AM to 11 PM).

Patient FAQ & Clinical Guidance

1. What exactly does the ITK Gene NGS test detect?

Detects ITK gene mutations causing lymphoproliferative syndrome type 1, a primary immunodeficiency predisposing to lymphoma. The assay screens the entire coding region and splice‑site boundaries for single nucleotide variants (SNVs), small insertions/deletions (indels), and copy‑number changes that abolish ITK protein function, thereby confirming the molecular diagnosis of LPFS1.

2. How is the sample collected and what should I expect?

A simple blood draw, dried blood spot card, or extracted DNA sample is collected via hospital‑grade home phlebotomy service from 8 AM to 11 PM. Our MOHAP‑licensed phlebotomist arrives with full PPE and ISO‑validated cold‑chain kit; the procedure takes under 5 minutes and requires no fasting, allowing you to continue normal activities immediately afterwards.

3. When will I receive my ITK genetic test results?

Results are delivered within 3 to 4 weeks due to comprehensive NGS analysis and clinical interpretation by expert molecular pathologists. This interval includes DNA extraction, library preparation, high‑depth sequencing, bioinformatic alignment to the ITK reference, variant classification per ACMG guidelines, and a multi‑disciplinary case review to ensure the report provides actionable clinical insights.

4. What are the implications of a positive or negative result?

A positive result confirms the molecular diagnosis of LPFS1, guiding early intervention with immunomodulatory therapy, surveillance for lymphoma, and genetic counselling for family members. A negative result reduces but does not entirely rule out the condition; additional testing through immunological panels and EBV monitoring may be recommended based on clinical presentation.

UAE Regulatory & Data Privacy Adherence

Data Protection & Compliance Framework

All genetic data processing at DNA Labs UAE conforms to the stringent requirements of 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 consent, data encryption, and secure transmission protocols are fully enforced. Clinical testing safety and patient consent follow Federal Decree‑Law No. 4 of 2016 on Medical Liability, ensuring ethical and legally sound practice.

DNA Labs UAE is ISO 9001:2015 Certified (Cert INT/EGQ/2509DA/3139), with all tests performed in a DHA/MOHAP‑licensed facility under DHA License No. 1143.

Clinical & Logistical Metadata

Test Name ITK Gene Lymphoproliferative Syndrome Type 1 Genetic Test
Price (AED) 2800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card)
Methodology Used Next‑Generation Sequencing (NGS) – Illumina platform
ICD-10-CM Code D47.9 (Neoplasm of uncertain behavior of lymphoid, hematopoietic and related tissue, unspecified)
LOINC Code 60215-0 (ITK gene targeted mutation analysis in Blood or Tissue by Molecular genetics method)
DHA Facility License & Laboratory Address DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE

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