Test Price
2,800 AED✅ Home Collection Available
LIAS Gene Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل LIAS Gene Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency Genetic Test في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary | ملخص تنفيذي
- Diagnostic Accuracy: 99.9% analytical sensitivity via ISO-certified NGS processing (Cert: INT/EGQ/2509DA/3139).
- Premium Home Service: Complimentary ISO-certified cold-chain home phlebotomy (8 AM – 11 PM) and genetic counselling for UAE families.
- Clinical Guidance: Complimentary post-test telephonic interpretation with a DHA-licensed physician (DHA: 61713011).
- Insurance & Billing: Direct insurance verification via WhatsApp +971 54 548 8731 – your policy coverage confirmed within minutes.
- ضمان الدقة: حساسية تشخيصية بنسبة 99.9% عبر معالجة معملية معتمدة وفقًا لمعايير ISO. خدمات سحب الدم المنزلي المتميزة بسلسلة تبريد معتمدة، وتوجيه إكلينيكي بعد النتيجة، والتحقق المباشر من التأمين الصحي.
Test Overview & Specialist Mapping
The LIAS Gene Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency NGS Test is a next‑generation sequencing (NGS) assay that analyses the entire coding region 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. ثلاثة من التخصصات الطبية الرئيسية تستفيد من هذا الاختبار التشخيصي الدقيق.
1. General Physician / طبيب عام
Clinical gatekeeper who identifies persistent lactic acidosis, developmental delay, and refers families for definitive genetic diagnosis.
2. Medical & PhD Researcher / باحث طبي
Interprets NGS variant data, correlates genotype‑phenotype, and contributes to metabolic disease registries and novel therapeutic research.
3. Metabolic Disease Specialist / أخصائي أمراض الاستقلاب
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/CNV variants |
| Turnaround Time | 3–4 weeks (cold‑chain validated) | 4–6 weeks typical |
| Pre‑test Counselling | Included (pedigree analysis + DHA genetic counselling session) | Often not provided |
Physician Insight & Safety Protocol
"A positive LIAS genetic result must be interpreted in the context of the patient’s metabolic profile and family history – this is not a stand‑alone diagnostic flag. I always recommend a dedicated genetic counselling session before and after the test to fully understand the implications for siblings and future pregnancies."
— Dr. PRABHAKAR REDDY, DHA License No. 61713011, Consultant Clinical Genetics & Metabolic Medicine
⚠️ Medical Alert: Do not discontinue prescribed medication (e.g., anticonvulsants, bicarbonate, or metabolic supplements) without consulting your treating physician. This test does not replace emergency medical care.
Safety Exclusion Criteria & Emergency Red Flags
- Infants or adults currently experiencing acute metabolic crisis (severe acidosis, coma, or seizure) – stabilise first in an ER.
- Patients without a valid medical referral or genetic counselling consent form – mandatory under UAE CDS Law 2026 for minors.
- Unstable cardiac or respiratory status that contraindicates safe home phlebotomy.
- ER Red Flags: Sudden regression of milestones, intractable vomiting, Kussmaul breathing, or altered consciousness – proceed to the nearest emergency department immediately.
Patient FAQ & Clinical Guidance
Q1: How can I schedule this test and the genetic counselling session in Dubai or Abu Dhabi?
Snippet: 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.
ببساطة، راسل فريقنا عبر واتساب على الرقم +971 54 548 8731 لترتيب زيارة منزلية من قبل أخصائي سحب دم مرخص من هيئة الصحة بدبي ومستشار وراثي معتمد خلال 24 ساعة.
Q2: What does the 3–4 week turnaround time include, and how will I receive the result?
Snippet: The turnaround encompasses DNA extraction, NGS library preparation, sequencing, bioinformatics analysis, and a comprehensive clinical report delivered via encrypted email and WhatsApp.
تشمل المدة استخراج الحمض النووي، وإعداد المكتبة الجينومية، والتسلسل، والتحليل المعلوماتي الحيوي، وتقرير سريري شامل يُرسل عبر البريد الإلكتروني المشفر وواتساب.
Q3: Is the sample collection painful, and do you handle samples for children with special needs?
Snippet: 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.
يستخدم أخصائيو سحب الدم لدينا إبرة فراشة غير مؤلمة تقريبًا أو طريقة بطاقة FTA بقطرة واحدة، مما يضمن أقل إزعاج حتى للأطفال ذوي الإعاقات العصبية الشديدة.
This test complies with Federal Decree‑Law No. 41 of 2024 (Art. 87 – Laboratory Services), UAE Child Data Protection Law (CDS) 2026, and Federal Decree‑Law No. 45 of 2021 (PDPL). ISO 9001:2015 Certified under certificate INT/EGQ/2509DA/3139.
ICD‑10‑CM 2026 Codes: E74.4, G31.82, Z13.79 | LOINC: 86215-4
Sample: Whole Blood, Extracted DNA, or One Drop Blood on FTA Card | Pre‑: Mandatory clinical history review and genetic counselling (pedigree chart).
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians