Table. 1. Table 1

Comparison of allele categorization between FA+SB and TP-PCR

FA+SB		TP-PCR				Concordance (%)

		FM	PM	INT	NL
FA	PM (55–80)		5			100
	INT (45–54)		1^†	4		80
	NL (< 45)				432	100
SB	FM (> 200)	9				100
	PM (80–200)		7			100
Total		9	13^*	4	432	458 (99.8)

^*12 of 13 PM in TP-PCR were identified in the same manner in FA and SB. ^†In FA, five 5 were identified as INT, and then one INT in FA showed a discrepancy in TP-PCR results as PM.

Abbreviations: FA, fragment analysis; SB, Southern bBlotting; TP-PCR, triplet repeat primed PCR; NL, normal allele; INT, intermediate (allele); PM, premutation (allele); FM, full mutation (allele).

Ann Lab Med 2021;41:394~400 https://doi.org/10.3343/alm.2021.41.4.394