Test Price
2,800 AEDโ Home Collection Available
ETFDH Gene Glutaric Acidemia Type 2C Genetic Test in UAE | 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Advanced molecular genetic analysis of the entire ETFDH gene via Next-Generation Sequencing (NGS) with Sanger confirmation for definitive diagnosis of Glutaric Acidemia Type 2C (MIM 231680). This diagnostic assay delivers 99.9% sensitivity across all coding exons and splice junctions and is processed under ISO 15189:2022 accredited laboratory standards at DNA Labs UAE, Dubai Healthcare City. The test includes a mandatory pre-test genetic counselling session, full gene coverage analysis, and a comprehensive clinical report with variant classification per ACMG guidelines. Optional VIP Mobile Phlebotomy with temperature-controlled cold-chain logistics is available for whole blood specimen collection at your residence daily from 8 AM to 11 PM.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing (ISO 15189:2022).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM to 11 PM).
- Clinical Guidance: Mandatory pre-test genetic counselling session; post-test telephonic consultation for result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
- Pricing: 2,800 AED (All-inclusive of counselling, analysis, and clinical report).
Test Overview & Methodology
Glutaric Acidemia Type 2C (GA2C) is a rare autosomal recessive disorder of fatty acid and amino acid metabolism resulting from pathogenic variants in the ETFDH gene. This test performs comprehensive sequencing of all coding exons plus flanking intronic regions using paired-end NGS on an Illumina platform, with a minimum depth of coverage of 100x. All clinically significant variants are independently confirmed via bi-directional Sanger sequencing. The analytical pipeline includes deletion/duplication analysis (CNV calling) to detect large structural rearrangements missed by standard sequencing. Results are reported with variant interpretation aligned to the American College of Medical Genetics and Genomics (ACMG) 2015 guidelines, including pathogenicity classification, population frequency data, and in-silico prediction scores.
| Feature | DNA Labs UAE โ ETFDH Gene Test (Premium Care) | Closest Alternative (Standard) |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) โ full gene coverage including CNV analysis + Sanger confirmation of all clinically significant variants | Singleโvariant Sanger sequencing (limited hotspot regions only) |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
| Price (AED) | 2,800 | 3,500 |
| Variant Classification | ACMG 2015 standards + population frequency (gnomAD) + in-silico prediction | Manual classification (limited evidence) |
Physician Insight & Safety Protocols
"Molecular genetic testing for ETFDH-related glutaric acidemia type 2C demands rigorous analytical depth and careful clinical correlation. The NGS assay we employ covers the entire coding region and detects both point mutations and copy-number variants. However, the true diagnostic yield is maximised only when results are contextualised with the patient's metabolic profile, plasma acylcarnitine pattern, and three-generation family pedigree. I strongly advise all families to engage in both pre-test and post-test genetic counselling to fully understand inheritance risks and carrier implications."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403 | DNA Labs UAE, Dubai Healthcare City
Important Medication Advisory
โ ๏ธ Medication Advisory:
Patients undergoing evaluation for metabolic disorders must not discontinue or modify any prescribed riboflavin, carnitine, or coenzyme Q10 supplementation without direct supervision of the treating metabolic specialist. Abrupt cessation of these therapies in confirmed GA2C patients may precipitate a metabolic crisis. Always consult your physician before making any medication changes.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Inability to provide informed consent (minors require legal guardian authorisation per Federal Decree-Law No. 4 of 2016 on Medical Liability); active severe illness where blood draw may be contraindicated; pregnancy does not exclude but requires specialised genetic counselling and informed consent documentation.
- Seek Emergency Care Immediately (ER): If the tested individual experiences sudden vomiting, profound lethargy, seizures, loss of consciousness, or hypoglycaemia โ these may signal an acute metabolic decompensation and require urgent medical attention.
- Home Collection Safety: Home phlebotomy is not recommended if the patient is clinically unstable, febrile, or has acute metabolic symptoms. In such cases, proceed directly to the nearest emergency department.
Patient FAQ & Clinical Guidance
1. What is the purpose of the ETFDH Gene Test?
This test performs complete sequencing of the ETFDH gene to detect pathogenic variants responsible for Glutaric Acidemia Type 2C (GA2C), a rare autosomal recessive disorder of fatty acid and amino acid oxidation. It provides a definitive molecular diagnosis, clarifies carrier status for at-risk family members, guides dietary and pharmacological management (including riboflavin and carnitine therapy), and enables prenatal/preimplantation genetic diagnosis for future pregnancies.
2. How long does it take to receive results?
The test turnaround time is 3 to 4 Weeks from the date the specimen is received by the DNA Labs UAE laboratory. This includes NGS library preparation, full gene sequencing, bioinformatics analysis, CNV calling, Sanger confirmation of all clinically significant variants, and final clinical interpretation with ACMG classification. Urgent requests may be expedited on a case-by-case basis subject to medical justification.
3. How should I prepare for this test?
A mandatory pre-test genetic counselling session is required prior to sample collection to document personal and family medical history, discuss inheritance risks, and obtain written informed consent. No fasting is required; no medication adjustments are necessary unless specifically advised by your metabolic specialist. Please provide any prior biochemical test results (plasma acylcarnitine profile, urinary organic acids) and a three-generation pedigree when available to optimise variant interpretation.
4. What sample type is required and how is it collected?
The required specimen is peripheral whole blood (3โ5 mL) collected in an EDTA (lavender-top) tube. DNA Labs UAE offers VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. Alternatively, samples may be collected at any DNA Labs UAE patient service centre or at a partner hospital phlebotomy station. For unstable patients, collection should occur within a clinical facility equipped for emergency care.
5. Is genetic counselling included in the test price?
Yes. The all-inclusive price of 2,800 AED covers the mandatory pre-test genetic counselling session, the full NGS analysis, Sanger confirmation, CNV analysis, and a post-test telephonic consultation with a genetics professional to explain the results and discuss clinical implications. Additional family member testing or carrier screening may incur separate charges and will be discussed during the counselling session.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under the regulatory purview of the Dubai Health Authority (DHA) and adheres to all applicable UAE federal data protection and health information governance frameworks. The processing of genetic data for this test is compliant with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ governing the collection, storage, and transfer of personal genetic information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ regulating electronic health records, telemedicine, and digital clinical data security.
All genetic data is encrypted at rest and in transit, stored on UAE-based secure servers, and accessible only to authorised laboratory and clinical personnel. Results are released solely to the referring physician and the patient following verification of identity. Genetic data is never shared with third parties without explicit written consent as mandated by law.
Clinical & Logistical Metadata
| Test Name | ETFDH Gene Glutaric Acidemia Type 2C Genetic Test (Full Gene Sequencing + CNV Analysis) |
| Price (AED) | 2,800 AED (All-inclusive โ counselling, analysis, clinical report, post-test consultation) |
| Turnaround Time | 3 to 4 Weeks from specimen receipt in laboratory |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA, 3โ5 mL) โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM to 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) โ Illumina platform, paired-end, โฅ100x coverage, CNV detection + Sanger confirmation of clinically significant variants |
| ICD-10-CM Code | E71.3 (Disorders of fatty-acid oxidation โ Glutaric acidemia) |
| LOINC Code | 82319-6 (ETFDH gene full sequencing) |
| DHA Facility License & Laboratory Address Invariants | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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