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Unit Code 84366:
Galactosemia Gene Analysis (6 Mutation Panel)

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Method Description

Direct mutation analysis:

A 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 6 mutations (see "Clinical Information”). (Wittwer CT, Herrmann

MG, Gundry CN, Elenitoba-Johnson KS:  Real-time multiplex PCR

assays. Methods 2001 Dec;25[4]:430-432)

Performing Laboratory Location

Rochester

Key