Postmortem Screening, Bile and Blood Spot
Use
This test is useful for the postmortem evaluation of individuals at any age who died suddenly or unexpectedly. It is particularly recommended for individuals with a family history of sudden infant death syndrome or other unexpected deaths, family history of Reye syndrome, maternal complications during pregnancy such as acute fatty liver pregnancy and HELLP syndrome, or exhibiting symptoms like lethargy and vomiting 48 hours prior to death. Additionally, it is suggested when there's an allegation of child abuse or macroscopic findings at autopsy such as fatty liver infiltration, cardiomyopathy, or non-life-threatening infections are present.
Special Instructions
Detailed reports for abnormal acylcarnitine profiles are provided, including result overviews and follow-up recommendations. For full guidance, see the Postmortem Screening Algorithm for Fatty Acid Oxidation Disorders and Organic Acidurias.
Limitations
Abnormal results from acylcarnitine analysis are not always sufficient to conclusively establish a diagnosis of a particular disease. Confirmatory enzymatic and molecular studies of cultured fibroblasts are recommended when abnormal results are obtained.
Methodology
Mass Spectrometry (Flow Injection Analysis-Tandem)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
