Test Price
2,800 AED✅ Home Collection Available
LIAS Gene Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% analytical sensitivity via ISO-certified next-generation sequencing (NGS) processing (Certificate INT/EGQ/2509DA/3139).
- Premium Home Service: Complimentary ISO-certified cold-chain home phlebotomy available daily from 8 AM to 11 PM, with integrated genetic counselling for UAE families.
- Clinical Guidance: Complimentary post-test telephonic interpretation with a DHA-licensed Consultant Medical Genetics (DHA Registration ID: 9294403).
- Insurance & Billing: Direct insurance verification via WhatsApp +971 54 548 8731 – your policy coverage confirmed within minutes.
Test Overview & Methodology
The LIAS Gene Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency NGS Test is a comprehensive next-generation sequencing assay that analyses the entire coding region, splice sites, and flanking intronic regions of the LIAS gene to identify pathogenic variants causing a rare inherited metabolic disorder. This deficiency impairs lipoic acid synthesis, secondarily disrupting the pyruvate dehydrogenase complex and leading to severe lactic acidosis, neurological deterioration, and Leigh-like syndrome. Three core medical specialties benefit from this precise diagnostic tool.
1. General Physician
Clinical gatekeeper who identifies persistent lactic acidosis, developmental delay, and refers families for definitive genetic diagnosis.
2. Medical & PhD Researcher
Interprets NGS variant data, correlates genotype-phenotype associations, and contributes to metabolic disease registries and novel therapeutic research.
3. Metabolic Disease Specialist
Manages long-term care including ketogenic diet adjustments, cofactor supplementation, and acute crisis prevention in confirmed LIAS deficiency patients.
Our Test vs. Closest Alternative
| Feature | Our LIAS NGS Test | Single-Gene Sanger Sequencing |
|---|---|---|
| Genomic Coverage | All coding exons, splice sites, and flanking intronic regions (full gene) | Typically limited to select exons or known mutation hotspots |
| Sensitivity for Novel Variants | 99.9% – detects SNVs, small indels, and copy number variations | ~95% only for targeted region; misses deep intronic and CNV variants |
| Turnaround Time | 3–4 weeks (cold-chain validated) | 4–6 weeks typical |
| Pre-test Counselling | Included (pedigree analysis plus DHA genetic counselling session) | Often not provided |
Physician Insight & Safety Protocols
"A positive LIAS genetic result must be interpreted alongside the patient's full metabolic profile and three-generation family pedigree. The test is not a stand-alone diagnostic flag and should always be paired with pre- and post-test genetic counselling, especially for sibling risk assessment and reproductive planning."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medical Advisory
⚠️ Important: Never discontinue prescribed anticonvulsants, bicarbonate, or metabolic supplements without direct consultation with your treating physician. This genetic test does not replace emergency medical care for acute metabolic decompensation.
Safety Exclusion Criteria & Emergency Red Flags
- Infants or adults currently experiencing acute metabolic crisis (severe acidosis, coma, or seizure) – stabilise first in an emergency room.
- Patients without a valid medical referral and signed genetic counselling consent form – mandatory for minors under UAE Federal Law.
- Unstable cardiac or respiratory status that contraindicates safe home phlebotomy.
- ER Red Flags: Sudden regression of developmental milestones, intractable vomiting, Kussmaul breathing, or altered consciousness – proceed to the nearest emergency department without delay.
Patient FAQ & Clinical Guidance
1. How can I schedule this test and the genetic counselling session in Dubai or Abu Dhabi?
Simply WhatsApp our team at +971 54 548 8731 to arrange a home visit by a DHA-licensed phlebotomist and a certified genetic counsellor within 24 hours. We cover all major UAE cities.
2. What does the 3–4 week turnaround time include and how will I receive the result?
The turnaround encompasses DNA extraction, NGS library preparation, sequencing, bioinformatics analysis, variant interpretation, and a comprehensive clinical report. Results are delivered via encrypted email and secure WhatsApp message.
3. Is the sample collection painful and do you accommodate children with special needs?
Our paediatric-friendly phlebotomists use a virtually painless butterfly needle or a single-drop FTA card method, ensuring minimal discomfort even for children with severe neurological impairments. We tailor every collection to the patient's needs.
4. Will my health insurance cover the LIAS genetic test in the UAE?
We offer direct insurance verification via WhatsApp. Send your policy details to +971 54 548 8731 and our billing team will confirm coverage within minutes. Many UAE insurers cover rare disease NGS panels with prior approval.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Security: All patient genetic data is handled in 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.
Certification: ISO 9001:2015 certified under certificate number INT/EGQ/2509DA/3139. All laboratory processes adhere to DHA standards for genetic testing and molecular diagnostics.
Clinical & Logistical Metadata
| Test Name | LIAS Gene Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency NGS Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM to 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene coding regions, splice sites, and flanking intronic regions |
| ICD-10-CM Code | E74.4, G31.82, Z13.79 |
| LOINC Code | 86215-4 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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