Test Price
2,800 AED✅ Home Collection Available
ECHS1 Gene Enoyl‑CoA Hydratase 1 Deficiency Genetic Test in UAE – 2800 AED – DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO‑certified NGS processing for point mutations and small indels across the entire ECHS1 coding region.
- Premium Logistics: VIP mobile phlebotomy & temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM; samples securely couriered to our Dubai Healthcare City laboratory.
- Clinical Guidance: Post‑test telephonic interpretation provided by a DHA‑licensed Consultant Medical Geneticist to contextualize results with metabolic and neuroimaging findings.
- Insurance & Billing: Direct billing verification via WhatsApp +971 54 548 8731; cashless options available for most UAE health insurance plans.
Corporate Lab Branding: DNA Labs UAE | DHA Facility License: 1143
Test Overview & Methodology
The ECHS1 gene next‑generation sequencing test detects pathogenic variants in the ECHS1 gene that cause mitochondrial short‑chain enoyl‑CoA hydratase 1 deficiency – a rare autosomal recessive neurometabolic disorder often presenting with Leigh‑like syndrome, hypotonia, developmental regression, and episodic metabolic decompensation. This targeted NGS analysis provides a definitive molecular diagnosis for patients suspected of a mitochondrial fatty acid oxidation defect, enabling precise genetic counselling and therapeutic planning.
| Feature | Our Test – NGS ECHS1 Gene | Alternative – Sanger Sequencing |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity for point mutations & small indels across all exons | ~99% sensitivity, limited to pre‑selected hotspot regions |
| Method | Next‑Generation Sequencing (NGS) with full exon and flanking intronic coverage | Sanger sequencing of targeted exons only |
| Turnaround | 3–4 weeks | 4–6 weeks |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics specialist, I emphasize that a definitive molecular diagnosis of ECHS1‑related mitochondrial disease must be correlated with clinical presentation, metabolic biomarkers, and neuroimaging findings. This targeted NGS analysis delivers high‑confidence variant identification, but families should understand that a negative result does not exclude other mitochondrial disorders that may require broader genomic investigation. Timely genetic counselling is essential for recurrence risk assessment and family planning."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory – Medication & Specimen Stability
Do not discontinue any prescribed medications (including antiepileptics, metabolic supplements, or cofactors) without consulting the managing physician before sample collection. Specimens for genetic analysis must be collected on a dedicated EDTA tube or DNA‑stabilizing card; any recent blood transfusion or allogeneic bone marrow transplant may introduce donor DNA interference and require an alternative sample type such as buccal swab or skin fibroblast culture.
Exclusion Criteria & ER Red Flags
- Exclusion: Patients with acute metabolic crisis requiring intensive care should receive emergency stabilization before sample collection; the test is not validated for critically ill individuals undergoing emergency exchange transfusion.
- Exclusion: This test is designed specifically for germline ECHS1 variants and is not indicated for acquired mitochondrial dysfunction from toxins, medications, or secondary metabolic disturbances.
- ER Red Flags: Seek immediate medical attention for sudden loss of consciousness, intractable seizures, stroke‑like episodes, or severe metabolic acidosis (rapid breathing, confusion, unexplained vomiting). Do not wait for genetic results before initiating emergency care.
Patient FAQ & Clinical Guidance
1. What is the ECHS1 deficiency Genetic Test and why is it important?
Snippet Answer: A definitive DNA diagnostic test that analyzes the ECHS1 gene for mutations causing mitochondrial short‑chain enoyl‑CoA hydratase deficiency. It confirms the genetic cause behind neurological symptoms such as Leigh syndrome, hypotonia, and developmental delay, guiding targeted treatment and family planning decisions.
2. How is the sample collected and what are the pre‑test requirements?
Snippet Answer: A blood draw (EDTA tube), DNA‑preserving FTA card, or extracted DNA sample is collected after mandatory genetic counselling. A comprehensive pedigree chart and clinical history are reviewed to ensure accurate variant interpretation. Home phlebotomy is available daily from 8 AM to 11 PM via our VIP mobile service.
3. How long do results take and what do they mean?
Snippet Answer: Results are available within 3 to 4 weeks and include a detailed written interpretation by a clinical geneticist. A positive result confirms ECHS1‑related mitochondrial disease, while a negative report may still require broader metabolic or genomic workup if clinical suspicion remains high.
UAE Regulatory & Data Privacy Adherence
Compliance Framework
This genetic test and all associated data handling comply with the UAE Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring that your genomic information is processed with explicit consent and stored under strict access controls. Our laboratory infrastructure adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, which mandates secure electronic health record management and audit trails. Clinical diagnostic decision‑making follows the standards set forth in Federal Decree‑Law No. 4 of 2016 on Medical Liability, guaranteeing that all results are delivered with appropriate professional oversight and accountability.
Clinical & Logistical Metadata
| Test Name | ECHS1 Gene Enoyl‑CoA Hydratase 1 Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), buccal swab, or extracted DNA |
| Methodology Used | Next‑Generation Sequencing (NGS) – full exon and flanking intronic coverage |
| ICD‑10‑CM Code | E71.39 (Other disorders of fatty‑acid oxidation) |
| LOINC Code | 81307-7 (Gene targeted mutation analysis) |
| DHA Facility License & Laboratory Address | License No: 1143 | DNA Labs UAE – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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