METABOLIC SCREEN (AUTOPSY BLOOD)
Test Code: MISM
Requisition available from Metabolic Laboratory 787-4530
A small percentage of infant deaths are attributed to a genetic disorder of metabolism. These disorders are primarily a result of impairments of the beta-oxidation of fatty acids and metabolism of organic acids. The metabolic screen on autopsy blood samples can screen for Congenital Adrenal Hyperplasia, methylmalonic acidemia, propionic acidemia isovaleric acidemia, glutaric aciduria and over 10 other inborn errors in organic acid and fatty acid metabolism.
For further information see: PerkinElmer Genetics
Blood: 1.0 mL
If the blood card cannot be sent immediately, store refrigerated or frozen. Ship at ambient temperature.
Reports include definitions for outcomes of screening tests, and cutoff reference values for various age ranges.
Within 2 Weeks
Blood specimens are forwarded to the Metabolic Laboratory at HSC. The appropriate blood cards are prepared according to the laboratory protocol and forwarded to PerkinElmer Genetics for analysis.