The laboratory does not maintain a collection of either normal or affected cell lines other than skin fibroblasts. Smaller flasks than T-75s, or those with cells that are not yet confluent, are acceptable but delay the analysis. The specimens are examined on arrival for confluence and for viability. The flasks are stored in the incubator for up to 3 days before analysis. The in-vitro test for fatty acid oxidation report returned to the ordering physician consists of a quantitative report that lists the concentrations of the abnormal metabolites detected in cell media and compares them with the normal ranges.
Interpretation is by our qualified physicians or biochemists, and is included with the report.
The most efficient means to distinguish between them is by molecular biology. Because complete mutation analysis can require gene sequencing, which is time-consuming, the treatment, which is the same for both defects, should be initiated immediately. There is also the possibility that certain disorders might not always be expressed in the fibroblasts. In cases of strong clinical and biochemical suspicion, more invasive strategies such as liver or muscle biopsies for enzyme studies may be indicated when the fibroblast assay is normal.