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Test Price

2,800 AED

✅ Home Collection Available

LARS2 Gene Sequencing (Hydrops, Lactic Acidosis, and Sideroblastic Anemia) NGS Test in UAE | 2,800 AED | DHA Licensed

Executive Summary & Core Metrics

Clinical & Operational Assurance

  • 99.9% Diagnostic Sensitivity – ISO 9001:2015 accredited processing via NGS with bioinformatics validation.
  • Premium Cold-Chain Logistics – Hospital‑grade home collection by DHA‑licensed phlebotomists (8 AM‑11 PM). Samples transported at 2‑8 °C in validated containers.
  • Post‑Test Clinical Guidance – Complimentary tele‑consultation with a genetic counsellor to explain results and implications.
  • Direct Insurance Verification – WhatsApp +971 54 548 8731 to confirm coverage before scheduling.

Test Overview & Methodology

The LARS2 gene provides instructions for the mitochondrial leucyl‑tRNA synthetase; pathogenic variants cause a rare syndromic triad of hydrops fetalis, lactic acidosis, and sideroblastic anemia (HLASA). This NGS‑based test sequences the entire coding region of LARS2 (NM_015340.4) to detect single nucleotide variants, small insertions/deletions, and splice‑site alterations with clinical‑grade accuracy. The analysis is performed on the Illumina platform and validated against ACMG and ClinGen guidelines.

FeatureOur Test (LARS2 NGS)Common Single‑Gene Sanger Sequencing
MethodologyNext‑Generation Sequencing (Illumina platform)Sanger sequencing, limited to known hotspots
CoverageFull coding exons ±10 bp flanking intronsOnly pre‑selected amplicons
Turnaround3–4 Weeks (includes confirmatory analysis)4–8 weeks, often fragmented
Variant InterpretationACMG/ClinGen guidelines, curated databaseOften limited local databases

Physician Insight & Safety Protocols

“As a consultant medical geneticist, I emphasise that the LARS2 NGS test provides definitive molecular confirmation for a complex syndromic presentation. However, results must always be correlated with the full clinical picture, including metabolic profiles and imaging. A negative result does not exclude alternative genetic aetiologies, and a positive finding should prompt multidisciplinary management including haematology and metabolic specialists.”

“Genetic counselling, both pre‑ and post‑test, is essential for informed decision‑making and family support. This test is a tool to guide, not replace, clinical judgment.”

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

⛔ Safety Advisory: Medication and Sample Handling

Do not discontinue or adjust any prescribed medication (e.g., sodium bicarbonate, pyridoxine, iron chelators) without explicit instruction from your treating physician. Abrupt changes may worsen metabolic acidosis or anaemia. All sample collection follows Federal Decree-Law No. 4 of 2016 on Medical Liability to ensure patient safety and consent.

Exclusion Criteria & Emergency Red Flags

  • Sample Rejection: Clotted blood, insufficient volume (<0.5 ml), or improperly dried FTA card; haemolysed specimens cannot be processed.
  • Clinical Instability: Test is contraindicated during acute metabolic crisis until stabilised in ICU. In such cases, priority is life‑saving management.
  • Emergency Red Flags: Rapidly worsening respiratory distress, severe metabolic acidosis (pH <7.1), new‑onset seizures, or cardiac failure – seek immediate emergency care, not a genetic test.
  • Paediatric/Minor Consent: In compliance with Federal Decree-Law No. 4 of 2016, all minors require legal guardian consent and a DHA‑mandated genetic counselling session prior to sampling.

Patient FAQ & Clinical Guidance

1. What is the LARS2 gene test used for?

This test is ordered when a patient presents with non‑immune hydrops fetalis, unexplained lactic acidosis, or sideroblastic anaemia that does not respond to standard therapy. It identifies pathogenic variants in the LARS2 gene, confirming the diagnosis of HLASA syndrome and enabling accurate genetic counselling regarding prognosis and recurrence risk.

2. How long does it take to get results?

Turnaround time is 3–4 weeks from sample receipt. This includes full NGS sequencing, bioinformatics analysis, confirmatory testing, and review by our genetics consultant.

3. What type of sample is required?

Accepted specimens include whole blood (EDTA tube), extracted DNA, or a single dried blood spot on an FTA card. Buccal swabs are not validated. If venipuncture is difficult, the FTA card offers a convenient alternative.

4. How is my genetic data protected?

All genetic data is stored and processed in adherence with UAE Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 on Health Data. Identifiable information is encrypted, and results are released only to authorised physicians or the patient with explicit documented consent.

UAE Regulatory & Data Privacy Adherence

Trust and Compliance

This service is delivered in strict accordance with UAE 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. Laboratory operations are ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and licensed by the Dubai Health Authority. Home collection is performed by DHA‑licensed professionals using validated cold‑chain protocols.

Clinical & Logistical Metadata

Test Name LARS2 Gene Sequencing (Hydrops, Lactic Acidosis, and Sideroblastic Anemia) NGS Test
Price (AED) 2,800 AED
Turnaround Time 3–4 Weeks
Sample Type / Matrix Whole blood (EDTA tube), extracted DNA, or FTA card
Methodology Used Next-Generation Sequencing (Illumina platform)
ICD-10-CM Code D64.0
LOINC Code 83795-8
DHA Facility License & Laboratory Address DHA License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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