| CPC C12Q 1/6883 (2013.01) [C12Q 2600/112 (2013.01); C12Q 2600/156 (2013.01); C12Q 2600/158 (2013.01); C12Q 2600/16 (2013.01)] | 6 Claims |
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1. A method of detecting a sequence variation of a PTCHD1 gene in an individual suspected of having Autism Spectrum Disorder (ASD), the method comprising:
(a) amplifying a PTCHD1 nucleic acid in a biological sample comprising a PTCHD1 nucleic acid obtained from a human; (b) sequencing the PTCHD1 nucleic acid from the biological sample; and (c) detecting the presence of a sequence variant of PTCHD1, wherein the sequence variant of PTCHD1 is a sequence variant of PTCHD1 comprising a G to A mutation at position corresponding to position 591 of SEQ ID NO: 17.
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