Table 1.

Summary of results showing the effects of fixation time, type of fixative and paraffin embedding on (re‐)identification of point mutations and number of triplet repeats, and by using different methods: QIAmp MicroQuiagen, Genomiphi™ and TaKaRa Ex Taq™.

	Frozen QIAmp MicroQuiagen	Paraffin QIAmp MicroQuiagen	Formalin QIAmp MicroQuiagen	Paraffin Genomiphi™	Paraffin TaKaRa Ex Taq™	Formalin Genomiphi™	Formalin TaKaRa Ex Taq™
M139T PSEN1	Yes	Yes	No	Yes	No	No	No
A713T APP	Yes	Yes	No	Yes	No	No	No
delN296 MAPT	Yes	Yes	No	No	No	No	No
P301L MAPT	Yes	Yes	Yes	No	No	No	Yes
E318G PSEN1	Yes	No	No	No	No	No	No
V89L PSEN1	Yes	No	No	No	No	No	No
SCA3	Yes	Yes	No	No	No	No	No
SCA3	Yes	Yes	No	No	No	Yes	No
SCA3	Yes	Yes	No	No	No	No	No
DRPLA	Yes	Yes	No	No	No	No	No
DRPLA	—	—	No	—	—	No	Yes
SCA2	—	Yes	—	—	—	—	—