Patent ID: 8748096

Claim:
A method for determining the presence of a repeat region comprising a CTG repeat within an at-risk allele of an SCA8 coding sequencing, comprising: (a) treating separate complementary DNA molecules containing a repeat region of an SCA8 coding sequence in a biological specimen from a human subject with a molar excess of an oligonucleotide primer pair, wherein the primers in the primer pair hybridize to a portion of the SCA8 coding sequence selected from the group consisting of nucleotides 1-448 and nucleotides 726-1159 of SEQ ID NO:1 or complements thereof, nucleotides 1-1070 and nucleotides 1350-1472 of SEQ ID NO:2 or complements thereof, and nucleotides 1-636 and nucleotides 915-1037 of SEQ ID NO:3 or complements thereof; (b) amplifying the SCA8 sequence flanked by the primers to produce a DNA fragment; (c) sequencing the amplified DNA fragment; and (d) determining the presence of the repeat region comprising the CTG repeat in the amplified DNA fragment.