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Test Price

2,800 AED

✅ Home Collection Available

NHEJ1 Gene NGS Test for SCID, Microcephaly & Radiation Sensitivity in UAE | 2800 AED

Executive Summary & Core Metrics

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited NGS Processing.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM – 11 PM).
  • Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation.
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

This advanced genetic assay provides precise detection of pathogenic NHEJ1 gene variants linked to severe combined immunodeficiency (SCID), microcephaly, growth retardation, and ionizing radiation sensitivity. Using next-generation sequencing with AI-assisted variant classification, it delivers definitive molecular diagnoses to guide life-saving interventions and genetic counselling under DHA-licensed supervision.

Test Overview & Methodology

The NHEJ1 gene NGS test identifies deleterious mutations responsible for severe combined immunodeficiency (SCID) accompanied by microcephaly, growth retardation, and extreme sensitivity to ionizing radiation. This whole-gene sequencing approach provides comprehensive coverage of all coding regions and splice sites, enabling a definitive molecular diagnosis critical for timely hematopoietic stem cell transplantation and tailored supportive care.

Feature Our Test (ISO 9001:2015) Closest Alternative
Methodology NGS with AI-Assisted Variant Interpretation (ACMG/ClinGen) Sanger sequencing (single exon only)
Diagnostic Sensitivity 99.9% (whole gene coverage) ~85% (limited regions)
Turnaround Time 3–4 Weeks 6–8 Weeks
UAE DHA Compliance Full (DHA License: 1143) Variable

Physician Insight & Safety Protocols

“As a Consultant Medical Genetics, I understand the profound impact a severe combined immunodeficiency diagnosis can have on a family. This NGS test provides the molecular clarity needed to guide precise therapeutic interventions and informed genetic counselling. Every result is reviewed in the context of the patient’s full clinical picture, and I am personally available to discuss findings and next steps.”

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

⚠️ Important Clinical Notice

Do not discontinue or modify any prescribed medication without direct consultation with your treating physician. This genetic test is a diagnostic aid intended to complement, not replace, ongoing clinical care and medical supervision.

Exclusion Criteria & Emergency Red Flags

  • Exclusion: Patients who have received a blood transfusion or bone marrow transplant within the last 2 weeks (may interfere with DNA integrity).
  • Exclusion: Individuals under a legal order for genetic testing without appropriate consent, as per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability and the UAE Personal Data Protection Law (PDPL).
  • ER Red Flag: If the patient develops severe respiratory distress, high fever unresponsive to antipyretics, or signs of acute immune dysregulation, proceed immediately to the nearest emergency department.
  • ER Red Flag: New‑onset seizures, altered consciousness, or sudden extreme lethargy in a child with suspected SCID require urgent hospital evaluation.

Patient FAQ & Clinical Guidance

1. How accurate is the NHEJ1 gene NGS test?

Our NGS platform achieves 99.9% diagnostic sensitivity for the entire NHEJ1 coding region, with all clinically significant variants classified according to ACMG and ClinGen guidelines, ensuring reliable results for clinical decision-making.

2. What sample is required and is home collection available?

A simple whole blood draw or buccal swab is sufficient. Our VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection service covers all UAE emirates daily from 8 AM to 11 PM.

3. How long does it take to receive the report?

Results are typically reported within 3 to 4 weeks. Expedited processing and a direct teleconsultation with our Consultant Medical Genetics are available upon request.

UAE Regulatory & Data Privacy Adherence

This service fully complies 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 testing is performed under DHA Facility License 1143 at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Corporate lab branding: DNA Labs UAE.

For clinical support and scheduling: WhatsApp +971 54 548 8731 | Home Collection 8 AM – 11 PM.

Clinical & Logistical Metadata

Test Name NHEJ1 Gene NGS Test for SCID, Microcephaly & Radiation Sensitivity
Price (AED) 2,800
Turnaround Time 3–4 Weeks
Sample Type / Matrix Whole Blood or Buccal Swab (VIP Mobile Phlebotomy & Cold-Chain Home Collection Available)
Methodology Used Next-Generation Sequencing (NGS) with AI-Assisted Variant Interpretation (ACMG/ClinGen)
ICD-10-CM Code D81.0, Q02
LOINC Code 21636-6
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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