Patent ID: 9365899
Filing Date: 2016-06-14
CPC Classification: C12Q,G01N

Claim Text:
1. A method of detecting a mutation in a FIG4 gene, comprising: a) contacting a FIG4 gene in a biological sample from a human subject with an oligonucleotide that specifically binds to a mutation in a variant FIG4 nucleic acid under high stringency conditions but does not bind to a FIG4 nucleic acid not comprising a mutation, wherein the oligonucleotide is labeled with a reporter molecule; and b) detecting hybridization of the oligonucleotide to the FIG4 gene, wherein detecting hybridization is indicative of a mutation in a FIG4 gene; wherein said mutation in a variant FIG4 nucleic acid is selected from the group consisting of: a T>C at a position corresponding to position 293 of SEQ ID NO: 1; a C>T at a position corresponding to position 718 of SEQ ID NO: 1; and a deletion of the sequence ATCAGGCA starting at a position corresponding to position 1214 of SEQ ID NO:1.