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Test Price

2,800 AED

✅ Home Collection Available

GFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 1 Genetic Test in UAE

Executive Summary & Core Metrics

  • Diagnostic Accuracy: 99.9% analytical sensitivity via ISO 15189-accredited next-generation sequencing (NGS) for single-nucleotide and copy-number variants.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM.
  • Clinical Guidance: Telephonic post-test consultation for result interpretation and management planning.
  • Insurance Billing: Direct billing verification via WhatsApp: +971 54 548 8731.

Test Overview & Methodology

The GFM1 gene test employs clinical-grade next-generation sequencing (NGS) to detect pathogenic variants responsible for combined oxidative phosphorylation deficiency type 1, a rare and severe mitochondrial disorder. Comprehensive coverage of all coding exons and flanking intronic regions ensures high-confidence variant identification for accurate diagnosis, carrier screening, and family risk assessment.

Parameter Our Test – GFM1 NGS Closest Alternative
Precision 99.9% analytical sensitivity for single-nucleotide & copy-number variants Sanger sequencing – lower sensitivity, may miss large deletions
Method NGS (Next-Generation Sequencing) with full gene coverage Targeted mutation panel – limited to known hotspots
Turnaround Time 3 to 4 Weeks Typically 6–8 Weeks

Physician Insight & Safety Protocols

“Pursuing a genetic diagnosis brings both clarity and emotional weight. This NGS-based test delivers highly accurate data, yet results must always be interpreted alongside the full clinical picture and family history. Patients should never alter or discontinue any prescribed therapy based solely on genetic findings without direct consultation with their treating specialist.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Medication Advisory

Do not stop, modify, or initiate any medication or nutritional supplement based on genetic test results without explicit guidance from your treating physician. Genetic risk information informs clinical decision-making but does not replace direct medical supervision.

Exclusion Criteria & Safety Red Flags

  • Exclusion Criteria: Active febrile illness, blood transfusion within the past 14 days (if whole blood is used), inability to provide informed consent (minors require guardian consent per Federal Decree-Law No. 4 of 2016 on Medical Liability), or unsuitable sample quality.
  • Emergency Red Flags: Sudden severe metabolic acidosis, rapid neurological deterioration, acute cardiomyopathy, or liver failure require immediate emergency medical attention — these may signal a metabolic crisis independent of test scheduling.

Patient FAQ & Clinical Guidance

1. What does the GFM1 gene test detect?

The GFM1 NGS test identifies disease-causing variants in the GFM1 gene that lead to combined oxidative phosphorylation deficiency type 1, a severe mitochondrial disorder affecting energy production in cells.

2. Why would a patient need this genetic analysis?

It is indicated for individuals with unexplained mitochondrial symptoms (e.g., hypotonia, developmental delay, metabolic acidosis), a family history of metabolic disease, or for pre-symptomatic carrier screening in at-risk families.

3. How long until I receive my results and what does the process involve?

Results are available within 3–4 weeks from sample receipt. The workflow includes genomic DNA extraction, library preparation, NGS on an Illumina platform, bioinformatic alignment and variant calling, plus clinical interpretation and report generation by a board-certified molecular geneticist.

4. Can this test guide treatment decisions for mitochondrial disease?

Yes, a confirmed genetic diagnosis can inform targeted management including metabolic support, vitamin/cofactor supplementation, seizure control, and avoidance of certain medications that may exacerbate mitochondrial dysfunction. Always discuss treatment adjustments with your specialist.

UAE Regulatory & Data Privacy Adherence

Compliance Framework: This diagnostic service operates in full conformity with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all patient data handling, storage, and sharing. Health information is further protected under Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and holds DHA Facility License No. 1143.

Clinical & Logistical Metadata

Test Name GFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 1 Genetic Test
Price (AED) 2,800 AED
Turnaround Time 3 to 4 Weeks
Sample Type / Matrix Peripheral Whole Blood (EDTA) — VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM
Methodology Used Next-Generation Sequencing (NGS) — Full gene coverage including coding exons and flanking intronic regions
ICD-10-CM Code E88.49
LOINC Code 101447-4
DHA Facility License & Address DHA License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE

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