Test Price
2,800 AEDโ Home Collection Available
ACAD8 Gene Isobutyryl-CoA Dehydrogenase Deficiency Genetic Test
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity for ACAD8 Pathogenic Variants via ISO Certified NGS Processing.
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
Post-Test Clinical Guidance by DHA-licensed genetic counselor via telephonic consultation.
Direct Billing Verification via WhatsApp +971 54 548 8731.
Conforms to Federal Decree-Law No. 45 of 2021 (PDPL) and Federal Law No. 2 of 2019. Facility License: 1143.
Test Overview & Methodology
The ACAD8 gene test identifies pathogenic variants causing isobutyryl-CoA dehydrogenase deficiency, a rare inborn error of valine metabolism. Using high-coverage NGS and Sanger confirmation, it delivers precise genetic confirmation for clinical diagnosis, carrier status, and reproductive risk assessment in the UAE.
| Feature | Our Test (NGS Single Gene) | Whole Exome Sequencing (WES) |
|---|---|---|
| Precision | 99.9% analytical sensitivity for ACAD8 coding regions (ยฑ20 bp intronic boundaries) | Lower coverage uniformity for single gene; risk of missing deep intronic variants |
| Methodology | NGS (Illumina platform) + Sanger confirmation of all reportable variants | Exome capture + NGS; incidental findings require orthogonal confirmation |
| Turnaround Time | 3 โ 4 Weeks | 8 โ 12 Weeks |
| Clinical Relevance | Focused, clinically actionable result for the patientโs phenotype | High rate of uncertain incidental findings; recommended only after expert counseling |
Physician Insight & Safety Protocols
โA positive ACAD8 variant report must be correlated with urine organic acid profiles and clinical symptoms. A negative result does not exclude all metabolic derangements. Discuss your results within the full clinical picture before making any health decisions.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License 9294403
Medical Advisory & Safety Considerations
Medication and Exclusion Advisory
- Medication Warning: Do not discontinue prescribed medication without consulting your treating physician. Genetic test results alone do not override current medical management.
- Exclusion Criteria: Pregnancy (requires additional genetic counseling and fetal medicine referral). Individuals declining pre-test genetic counseling.
Emergency Red Flags
- If the tested individual develops sudden lethargy, recurrent vomiting, seizures, hypoglycemia, or signs of metabolic decompensation, seek immediate emergency medical care. These symptoms may indicate an acute metabolic crisis.
Patient FAQ & Clinical Guidance
1. What does the ACAD8 gene test detect and why is it ordered?
The ACAD8 gene test detects mutations that cause isobutyryl-CoA dehydrogenase deficiency, a rare metabolic disorder marked by impaired valine breakdown. It is ordered to confirm a clinical diagnosis, determine carrier status, or guide family planning for at-risk couples.
2. What should I do before giving the blood sample?
You must attend a mandatory genetic counseling session to draw a detailed pedigree chart of family members affected by isobutyryl-CoA dehydrogenase deficiency before the blood collection.
3. How accurate is this genetic test and how will I receive support?
With 99.9% diagnostic sensitivity and Sanger sequencing confirmation, the test is highly reliable; post-test telephonic guidance from a genetic expert ensures you understand the implications under UAE law.
UAE Regulatory & Data Privacy Adherence
This test is performed in full 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 safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genetic data is handled with strict confidentiality and used solely for diagnostic purposes.
Clinical & Logistical Metadata
| Test Name | ACAD8 Gene Isobutyryl-CoA Dehydrogenase Deficiency Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 โ 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) โ VIP Mobile Phlebotomy & Cold-Chain Home Collection |
| Methodology Used | NGS (Illumina) + Sanger Confirmation |
| ICD-10-CM Code | E71.121 |
| LOINC Code | 21619-4 |
| DHA Facility License & Laboratory Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians