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Test Price

2,800 AED

✅ Home Collection Available

LIG4 Gene (LIG4 Syndrome) Genetic Test in the UAE | 2,800 AED | DHA-Licensed NGS Diagnostics

Executive Summary & Core Metrics

Executive Clinical Brief & Service Guarantee

  • Diagnostic Precision: 99.9% analytical sensitivity and specificity via ISO 9001:2015 accredited NGS, verified against expertly curated genomic databases and DHA molecular standards.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM, with ISO-certified transport.
  • Clinical Guidance: Compulsory pre- and post-test genetic counselling with telephonic interpretation by a DHA-licensed Consultant Medical Genetics.
  • Insurance & Billing: Direct billing verification via secure WhatsApp at +971 54 548 8731 – most major UAE insurers accepted.

Test Overview & Methodology

LIG4 (DNA ligase IV) is essential for V(D)J recombination and non-homologous end joining; biallelic pathogenic variants cause LIG4 syndrome – a radiosensitive severe combined immunodeficiency with microcephaly, photosensitivity, bone marrow failure, and a strikingly elevated malignancy risk. This NGS panel sequences the entire coding region and splice junctions of the LIG4 gene, providing the highest diagnostic yield for both classic and atypical presentations.

ParameterOur NGS Test (UAE)Closest Alternative (Sanger Sequencing)
Target RegionFull gene (coding ± splice sites, ±10 bp)Single-exon or amplicon only
Sensitivity>99.9% for SNVs, indels, CNVs (confirmed by MLPA backup)~90% for SNVs; cannot detect large CNVs
Turnaround Time21–28 calendar days35–45 calendar days
UAE DHA/MOHAP AlignmentFully compliant; ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139)Often non-standardised

Physician Insight & Safety Protocols

"As a DHA-licensed Consultant Medical Genetics, I want to emphasise that an LIG4 genetic diagnosis is not a verdict but a roadmap. Even a confirmed pathogenic variant requires meticulous clinical correlation with immunological, dermatological, and oncological findings – this gene's expressivity can vary. Every result must be discussed with a multidisciplinary team to personalise surveillance and treatment."

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

⚠ Medication Advisory

Never suspend any prescribed immunosuppressive, dermatologic, or chemopreventive medication without explicit guidance from your treating physician. Abrupt discontinuation may trigger severe disease flares or opportunistic infections. Always consult your specialist before making changes.

Exclusion Criteria & Emergency Red Flags

  • Uncontrolled active infection requiring hospitalisation.
  • Profound neutropenia (ANC <0.5 × 10⁹/L) without pre-test stabilisation.
  • New-onset neurological deficit, seizures, or loss of consciousness – proceed to ER immediately.
  • Severe bleeds, petechiae, or haematomas suspicious for bone marrow failure – call 998.
  • Pregnancy (relative exclusion; defer until post-partum unless urgent oncogenetic counselling required).

Patient FAQ & Clinical Guidance

1. What is LIG4 syndrome and why is this NGS test the gold standard?

LIG4 syndrome is a rare autosomal recessive disorder combining severe combined immunodeficiency, microcephaly, photosensitivity, and cancer predisposition. This NGS fully sequences the LIG4 gene, detecting >99.9% of both point mutations and large deletions missed by older methods.

2. Who should be tested for the LIG4 gene?

Testing is recommended for children and adults presenting with syndromic combined immunodeficiency, microcephaly, photosensitivity, or a family history of lymphoma or leukaemia. Carrier testing is also offered for at-risk family members.

3. How should I interpret a negative result?

A negative NGS panel rules out pathogenic variants within the LIG4 coding region, but if clinical suspicion remains high, whole-exome or whole-genome sequencing may be warranted. Consult your geneticist for ongoing surveillance protocols.

4. What sample is needed and how is it collected?

A standard peripheral whole blood sample (EDTA tube) is required. Our VIP Mobile Phlebotomy service offers convenient home collection from 8 AM to 11 PM daily, with temperature-controlled cold-chain transport to the laboratory.

UAE Regulatory & Data Privacy Adherence

Your data is protected under UAE law.

All genetic information is handled in strict 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. Clinical testing safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability.

DNA Labs UAE is fully licensed by the Dubai Health Authority (DHA) and adheres to the highest standards of confidentiality, data security, and ethical genetic testing practice.

Clinical & Logistical Metadata

Test Name LIG4 Gene (LIG4 Syndrome) Genetic Test
Price (AED) 2,800 AED
Turnaround Time 21–28 calendar days
Sample Type / Matrix Peripheral whole blood (EDTA) or extracted gDNA
Methodology Used Next-Generation Sequencing (NGS) – full coding region and splice junctions
ICD-10-CM Code D81.8
LOINC Code 101370-8
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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