2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Assessment of the Impacts of Sample Matrix on Blood Acylcarnitine Determinations

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The study assessed the impact of different sample matrices on blood acylcarnitine determinations. Acylcarnitine profile analysis is used to diagnose metabolic disorders and evaluate individuals suspected of having fatty acid or organic acid disorders. The study compared plasma samples obtained from sodium heparin, lithium heparin, EDTA anticoagulated, and serum tubes. Samples were collected at the same time from three healthy individuals and assayed in triplicates.<br /><br />The results showed significant differences in the concentrations of certain acylcarnitines based on the blood collection tube type. For example, propionylcarnitine (C3) was found to be at least 25% lower in serum compared to other tube types. Decanoylcarnitine (C10) was approximately 25-30% higher in heparinized plasma or serum compared to EDTA anticoagulated plasma. Butyrobetaine also showed higher concentrations in heparinized plasma compared to serum or EDTA anticoagulated plasma.<br /><br />These matrix effects can have implications for diagnostic decisions, especially when the differences in concentrations straddle medical decision cut-offs. This may be particularly relevant for mild and late-onset forms of inherited metabolic disorders. The study suggests the need for matrix-specific reference intervals for acylcarnitine analytes that differ significantly between tube types.<br /><br />In conclusion, the study highlights the importance of considering the sample matrix when performing blood acylcarnitine determinations. Matrix effects can impact the results and potentially affect diagnostic decisions. Therefore, it is crucial to establish appropriate reference intervals for different tube types to ensure accurate interpretation of acylcarnitine profiles.

Asset Subtitle

Presenting Author - Lidong Zhai, PhD; Co-Author - Dahai Shao, PhD; Co-Author - Richard Giles, PhD; Co-Author - Kathleen Pap, ,; Co-Author - Marvin Natowicz, MD, PhD;

Meta Tag

Metabolic Disorder

Methodology

Co-Author Dahai Shao, PhD

Co-Author Richard Giles, PhD

Co-Author Kathleen Pap, ,

Co-Author Marvin Natowicz, MD, PhD

Presenting Author Lidong Zhai, PhD

Keywords

blood acylcarnitine determinations

sample matrices

acylcarnitine profile analysis

metabolic disorders

blood collection tube type

propionylcarnitine (C3)

decanoylcarnitine (C10)

butyrobetaine

matrix effects

reference intervals