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Unit Code 84367:
Galactosemia Gene Analysis, Known Mutation

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Method Description

A polymerase chain reaction (PCR)-based assay utilizing

fluorescence resonance energy transfer (FRET) probes,

melt-curve analysis, and LightCycler technology is used to

examine the GALT gene for the presence of the known familial

mutation(s). (Wittwer CT, Herrmann MG, Gundry CN, Elenitoba-

Johnson KS: Real-time multiplex PCR assays. Methods 2001

Dec;25[4]:430-442)

Performing Laboratory Location

Rochester

Key