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Test Price

2,800 AED

✅ Home Collection Available

DICER1 Gene Pleuropulmonary Blastoma Genetic Test in UAE

Executive Summary & Core Metrics

Diagnostic Performance:

99.9% clinical sensitivity for germline DICER1 mutations via ISO-accredited next-generation sequencing (Cert: INT/EGQ/2509DA/3139).

Sample Logistics:

VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM across all UAE emirates.

Post-Test Support:

Telephonic clinical guidance with expert variant interpretation and familial risk counseling.

Insurance & Billing:

Direct billing verification via WhatsApp +971 54 548 8731 (DHA-approved network).

This test detects germline mutations in the DICER1 gene that confer hereditary predisposition to pleuropulmonary blastoma, a rare pediatric lung tumor, and associated DICER1 syndrome neoplasms.

Test Overview & Methodology

This advanced next-generation sequencing (NGS) assay interrogates the full coding region and conserved splice sites of the DICER1 gene using an Illumina platform. The test identifies single-nucleotide variants, small insertions and deletions, and copy-number alterations that predispose to pleuropulmonary blastoma and other DICER1-related tumors. Bioinformatics analysis follows ACMG/AMP variant classification guidelines for clinical reporting.

The test is indicated for children and adults with personal or family history suggestive of DICER1 syndrome, including pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumors, multinodular goiter, or embryonal rhabdomyosarcoma. A mandatory pre-test genetic counseling session is required to document a three-generation pedigree and obtain informed consent.

Feature DICER1 NGS Test Targeted Sanger Sequencing
Diagnostic Sensitivity 99.9% – full exon and splice-site coverage ~95% – limited to common hotspot regions
Methodology Next-Generation Sequencing (Illumina platform) Sanger sequencing of selected exons
Turnaround Time 3–4 weeks (including bioinformatics) 5–6 weeks
Sample Options Whole Blood EDTA, Extracted DNA, FTA Card finger-prick Whole Blood EDTA only

Physician Insight & Safety Protocols

"Familial genetic testing requires careful interpretation within the full clinical context. A pathogenic DICER1 variant establishes a hereditary predisposition, but the absence of a variant does not rule out sporadic pleuropulmonary blastoma. Every result must be correlated with imaging, pathology, and family history. This test serves as a guide for surveillance, not a definitive diagnosis."

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

Important Safety Advisory

Do Not Alter Medical Regimens Independently

A genetic test result is not a treatment directive. Continue all prescribed medications and clinical follow-up schedules until your specialist provides updated guidance. Sudden changes to therapy based solely on genetic information may lead to complications.

Seek Emergency Care If You Observe:

  • Acute chest pain, unexplained respiratory distress, or hemoptysis
  • Rapid enlargement of a chest or abdominal mass
  • Pediatric warning signs: cyanosis, intercostal retractions, grunting

Exclusion Criteria for This Test

  • Inability to provide informed consent for genetic testing
  • Minors presenting without a legal guardian during mandatory pre-test counseling
  • Active febrile illness or hemodynamic instability that could compromise sample integrity
  • Prior allogeneic bone marrow transplantation (interferes with germline DNA analysis)

Patient FAQ & Clinical Guidance

1. What is the DICER1 gene test used for in children and adults?

The DICER1 NGS test detects germline mutations that predispose to pleuropulmonary blastoma, a rare pediatric lung cancer, and other DICER1 syndrome-associated tumors including cystic nephroma, Sertoli-Leydig cell tumors, multinodular goiter, and embryonal rhabdomyosarcoma. The test is recommended when personal or family history raises suspicion of an inherited DICER1 pathogenic variant, enabling tailored surveillance and early intervention protocols.

2. How is the sample collected and can home collection be arranged in Dubai?

Sample collection is performed via standard venipuncture (whole blood EDTA), an existing extracted DNA specimen, or a painless finger-prick onto an FTA card. DHA-licensed mobile phlebotomists provide temperature-controlled home collection across all UAE emirates between 8 AM and 11 PM daily. All transport adheres to ISO certified cold-chain logistics to preserve nucleic acid integrity.

3. What actions should be taken if the DICER1 test returns a positive result?

A positive (pathogenic) result requires prompt referral to a pediatric oncologist and a clinical geneticist for comprehensive surveillance planning. Imaging protocols, physical examinations, and family cascade testing are initiated based on established DICER1 syndrome guidelines. Early detection of associated tumors significantly improves outcomes, so do not delay scheduling the follow-up consultation.

4. Are there any dietary or medication restrictions before providing a blood sample?

No special dietary preparation or medication changes are required for this genetic test. However, please inform the laboratory and your genetic counselor about any current medications, supplements, or recent blood transfusions, as these may influence downstream testing or interpretation.

UAE Regulatory & Data Privacy Adherence

Compliance Framework

All genetic testing and data handling procedures at DNA Labs UAE 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. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genetic data is encrypted, access-restricted, and never shared without explicit written consent. DHA Facility License No. 1143 governs all laboratory operations within Dubai Healthcare City.

Clinical & Logistical Metadata

Test Name DICER1 Gene Pleuropulmonary Blastoma Genetic Test
Price (AED) 2,800 AED
Turnaround Time 3–4 weeks from sample receipt
Sample Type / Matrix Whole Blood EDTA, Extracted DNA, FTA Card finger-prick
Methodology Used Next-Generation Sequencing (Illumina platform)
ICD-10-CM Code Z15.09
LOINC Code 82939-0
DHA Facility License & Laboratory Address DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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