Table 1.

Huntington disease (HD) reference samples with published allele sizes [30] compared to those determined using the AmplideX PCR/CE HTT Kit.

Vendor ID	Input (ng)	Categorical Bin	Published (Kalman et al., 2007)		Measured AmplideX PCR/CE HTT Kit
			Allele 1	Allele 2	Allele 1	Allele 2
NA20245	20	Normal	15	15	15	15
NA20206	20	Normal	17	18	17	18
NA20207	20	Normal	19	21	19	21
NA20246	20	Normal	15	24	15	24
NA20247	20	Intermediate	15	29	15	29
NA20248	20	Reduced Penetrance	17	36	17	36
NA20249	20	Reduced Penetrance	22	39	22	39
NA20208	20	Expanded	35	45	35	45
NA20209	20	Expanded	45	47	45	47
NA20210	20	Expanded	17	74	17	75
NA20250	20	Expanded	15	40	15	40
NA20251	20	Expanded	39	50	39	50
NA20252	20	Expanded	22	65 & 66	22	66 *
NA20253	20	Expanded	22	100	22	100 **

Allele genotypes for Coriell samples shown from Kalman et al. [30] are the mode; error limits were set at ±1 for alleles ≤42 repeats and ±3 repeats for alleles >42 CAG repeats, according to the European Molecular Genetics Quality Network best practice guidelines for the molecular genetic testing of Huntington disease [31]. * A 63 CAG mosaic allele was also detected. ** A 128 CAG mosaic allele was also detected. Underlined and in bold, the difference between the two methodologies.