MS/MS and Reporting of Results
The quantitative measurements of the various amino acids and acylcarnitines support the interpretation of the complete profile, but are not diagnostic by themselves. The interpretation is by pattern recognition. This concept sets apart a biochemical genetics laboratory from conventional clinical chemistry and most newborn screening laboratories, which provide quantitative results without interpretation.
Abnormal screening test results are typically not sufficient to conclusively establish a diagnosis of a particular disease. To verify a preliminary diagnosis, independent biochemical (i.e., in vitro enzyme assay) or molecular genetic analyses are required, many of which are offered by Mayo. As opposed to other screening laboratories, we do not recommend sending another blood spot for follow-up of abnormal results because normal blood spot values for newborns older than one week are generally not available, and time lost in the diagnostic process may be detrimental to affected children.
The Biochemical Genetics Laboratory's reports are in text form only, and values for the more than 60 analytes and analyte ratios will not be provided when the screening result is normal.
A report for an abnormal screening result will include:
- Quantitative result of the abnormal metabolites.
- Detailed interpretation of the results, including an overview of the results' significance, possible differential diagnoses, recommendations for additional biochemical testing and confirmatory studies (enzyme assay, molecular analysis), name and phone number of contacts at Mayo Clinic.
- Contact numbers for one of the laboratory directors
in case the referring physician has additional questions.