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See Table A. Genes and Databases for chromosome locus and protein.

See Molecular Genetics for information on allelic variants detected in this gene.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

In one study, SLC22A5 sequencing performed in 70 infants with low carnitine levels detected by newborn screening identified two pathogenic variants in 23 infants and one pathogenic variant in 25 infants; no pathogenic variants were detected in 22 infants [Li et al 2010].

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

The Human Gene Mutation Database (HGMD) (www​.hgmd.cf.ac.uk)