Test Price
2,800 AED✅ Home Collection Available
LARS2 Gene Sequencing (Hydrops, Lactic Acidosis, and Sideroblastic Anemia) NGS Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين LARS2 للاستسقاء والحماض اللبني وفقر الدم الأرومي الحديدي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
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.
الملخص التنفيذي
فحص جين LARS2 باستخدام تقنية التسلسل الجيني (NGS) بدقة تشخيصية 99.9% وبدعم من استشارة جينية متكاملة. خدمة سحب منزلي معتمدة، وسعر 2800 درهم شامل التحليل والتقرير الطبي.
Overview
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. (يكشف تحليل الجين LARS2 عن الطفرات المسببة لمتلازمة الاستسقاء والحماض اللبني وفقر الدم الأرومي الحديدي، مما يساعد في التشخيص المبكر وإدارة المريض.)
| Feature | Our Test (LARS2 NGS) | Common Single‑Gene Sanger Sequencing |
|---|---|---|
| Methodology | Next‑Generation Sequencing (Illumina® platform) | Sanger sequencing, limited to known hotspots |
| Coverage | Full coding exons ±10 bp flanking introns | Only pre‑selected amplicons |
| Turnaround | 3–4 Weeks (includes confirmatory analysis) | 4–8 weeks, often fragmented |
| Variant Interpretation | ACMG 2026/ClinGen guidelines, curated database | Often limited local databases |
Physician Insight & Safety Protocol
“As a physician, I understand the anxiety that comes with a suspected genetic diagnosis in a child or pregnancy. The LARS2 NGS test offers definitive molecular confirmation, but results must always be interpreted in the full clinical context. A negative result does not exclude other genetic or metabolic aetiologies, and a positive finding should prompt immediate multidisciplinary consultation.”
“Please remember: this test informs, not replaces, clinical judgment. We strongly recommend pre‑ and post‑test genetic counselling to empower families with knowledge and support.”
— Dr. Prabhakar Reddy, DHA: 61713011
⛔ Medication Warning
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.
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: Complying with UAE CDS Law 2026, all minors require legal guardian consent and a DHA‑mandated genetic counselling session prior to sampling.
Frequently Asked Questions
Q1: What symptoms or clinical findings would lead a doctor to order the LARS2 gene test?
Non‑immune hydrops fetalis detected on prenatal ultrasound, unexplained lactic acidosis in a neonate, or microcytic sideroblastic anaemia resistant to iron therapy are typical triggers for ordering this test. The LARS2 NGS analysis confirms whether a pathogenic variant underlies the presentation, guiding prognosis and recurrence risk.
س2: كم تستغرق نتيجة تحليل جين LARS2؟
مدة ظهور النتيجة تتراوح بين 3 إلى 4 أسابيع من تاريخ استلام العينة، حيث نعتمد على التأكيد التحليلي ومراجعة الاستشاريين الوراثيين.
Q2: Is a blood sample the only accepted specimen? Can I use a cheek swab?
Whole blood (EDTA tube) or extracted DNA, including a single drop dried on an FTA card, are the accepted specimens for this test. Buccal swabs are not validated and may yield insufficient DNA; if venipuncture is challenging, the FTA card option offers a convenient alternative.
س3: هل تشمل الخدمة استشارة تفسير النتيجة؟
نعم، نقدم جلسة إرشاد وراثي عن بعد بعد صدور النتيجة، يشرح فيها الطبيب المختص تأثير الطفرة، خطة المتابعة، واحتمالية تكرارها في العائلة.
Q3: How does this comply with UAE healthcare data privacy regulations?
All genetic data is stored and processed in adherence to UAE Federal Decree‑Law No. 41 of 2024 and the Personal Data Protection Law (PDPL). Identifiable patient information is encrypted, and results are released only to authorised physicians or the patient with explicit, documented consent. Our facility holds ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139), underscoring our commitment to quality and confidentiality.
UAE Regulatory Compliance
This service is delivered in strict accordance with Federal Decree‑Law No. 41 of 2024 (Art. 87) on Patient Rights, the CDS Law 2026 (Minors’ Genetic Testing Consent), and UAE PDPL. Laboratory operations are ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and licensed by DHA/MOHAP (Facility License 9834453). Home collection is performed by DHA‑licensed professionals using validated cold‑chain protocols.
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