Patent ID: 7413860

Claim:
A method of testing whether an individual's genome carries a mutant OCTN2 allele that, in the homozygous state, may result in systemic carnitine deficiency, the method comprising (a) identifying an individual suspected of carrying the mutant allele; and (b) analyzing a nucleic acid sample from the individual to determine the presence or absence of a mutation in (i) DNA encoding OCTN2 (SEQ ID NO:1) or (ii) OCTN2 genomic DNA (SEQ ID NO:5) or (iii) a sequence that regulates expression of SEQ ID NO:5, wherein the presence of the mutation in (i) or (ii) or (iii) indicates that the individual carries a mutant OCTN2 allele that, in the homozygous state, may result in systemic carnitine deficiency.