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Test Price

2,800 AED

✅ Home Collection Available

STAT5B Gene Sequencing (Growth Hormone Insensitivity with Immunodeficiency) – Genetic Test in UAE | 2,800 AED | DHA Licensed

  • Diagnostic Accuracy: 99.9% sensitivity for coding region variants via ISO‑certified NGS workflow.
  • Premium Logistics: VIP mobile phlebotomy with temperature‑controlled cold‑chain home collection available daily 8 AM–11 PM.
  • Clinical Guidance: Post‑test telephonic consultation with a consultant medical geneticist to interpret results.
  • Insurance: Direct coverage verification via WhatsApp +971 54 548 8731.

Executive Summary & Core Metrics

This molecular assay employs next‑generation sequencing to interrogate the complete coding region of the STAT5B gene, delivering definitive detection of pathogenic variants that cause growth hormone insensitivity compounded by profound immunodeficiency. Early identification enables targeted growth factor therapy and coordinated immunological management, significantly improving long‑term paediatric outcomes.

Test Overview & Methodology

The STAT5B gene sequencing test uses a comprehensive NGS bioinformatics pipeline to capture single‑nucleotide variants, small insertions/deletions, and splice‑site alterations across all exons and flanking intronic regions. This approach delivers superior analytical sensitivity compared with traditional Sanger sequencing, which may miss mosaic or low‑level variants.

Feature Our Test (STAT5B NGS) Closest Alternative (Sanger Sequencing)
Analytical Precision 99.9% diagnostic sensitivity for coding variants ~85% for single‑exon deletions
Methodology NGS with full bioinformatics pipeline Chain‑termination (Sanger) sequencing
Turnaround Time 3–4 Weeks 8–12 Weeks

Physician Insight & Safety Protocols

The following expert guidance and safety measures are designed to ensure accurate molecular diagnosis while protecting patient welfare throughout the testing pathway.

“STAT5B deficiency presents a challenging clinical picture where growth failure and immune dysregulation intersect. This NGS‑based test must be interpreted alongside immunological phenotyping, family pedigree analysis, and growth factor challenge studies to guide timely, life‑saving interventions.”

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

Advisory Notice

Do not discontinue or alter any prescribed medication without explicit consultation with your treating physician. The following red‑flag symptoms warrant immediate medical evaluation:

  • Persistent fever exceeding 38.5°C or new‑onset respiratory distress.
  • Signs of opportunistic infection (e.g., oral thrush unresponsive to topical therapy, severe diarrhoea).
  • Unresponsiveness or lethargy in the child – seek emergency care without delay.

Exclusion Criteria

  • Recent hematopoietic stem cell transplant (donor‑derived cells can mask the patient’s germline mutation).
  • Active severe infection requiring hospitalisation – blood draw should be postponed until clinical stability.
  • Known complete chimerism following transplant – discuss alternative testing with a clinical geneticist.

Patient FAQ & Clinical Guidance

1. What is the purpose of STAT5B gene sequencing?

This test identifies pathogenic variants in the STAT5B gene responsible for combined growth failure and immunodeficiency, enabling targeted treatment planning. The assay decodes the entire coding region to pinpoint mutations that cause growth hormone insensitivity with immune deficiency, a rare autosomal recessive disorder. Early molecular confirmation allows for growth factor therapy and coordinated immunological management.

2. How should I prepare for the blood collection?

No fasting or medication changes are required; however, inform the phlebotomist of any recent blood transfusions or stem cell therapy. A small volume of whole blood is collected at home by an ISO‑certified nurse using a temperature‑controlled cold‑chain protocol. Maintaining usual medication is safe, and a genetic counselling session will be arranged beforehand to document the family pedigree.

3. How long will results take and how are they delivered?

Results are typically available in 3 to 4 weeks and are securely delivered through our online portal with a telephonic consultation. Once the multidisciplinary team validates the genetic findings, the report is uploaded to a password‑protected portal. You will receive a call to schedule a follow‑up discussion with a consultant medical geneticist who will explain the implications and necessary next steps.

UAE Regulatory & Data Privacy Adherence

All genetic testing procedures at DNA Labs UAE comply with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring that your genomic data is encrypted, access‑controlled, and never shared without explicit consent. Clinical safety and patient consent protocols follow Federal Decree‑Law No. 4 of 2016 on Medical Liability, while the use of health information communication technology adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Our DHA‑licensed facility undergoes regular audit to maintain the highest standards of data security and clinical integrity.

Clinical & Logistical Metadata

Test Name STAT5B Gene Sequencing (Growth Hormone Insensitivity with Immunodeficiency)
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Whole Blood (Peripheral) – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection Available Daily 8 AM–11 PM
Methodology Used Next‑Generation Sequencing (NGS) – Full Gene Coding Region Analysis with Bioinformatics Pipeline
ICD-10-CM Code E34.3, D84.9
LOINC Code 55231-4
DHA Facility License & Laboratory Address License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE

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