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

See Molecular Genetics for information on variants.

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

Several intronic variants outside of the canonical splice junction typically included by standard sequencing have been reported [Rademakers et al 2011, Konno et al 2017, Wu et al 2022]. These and other deep intronic variants may be detected by genome sequencing.

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. Gene-targeted deletion/duplication testing will detect deletions ranging from a single exon to the whole gene; however, breakpoints of large deletions and/or deletion of adjacent genes (e.g., those described by Ishiguro et al [2023]) may not be detected by these methods. Exome and genome sequencing may be able to detect deletions/duplications using breakpoint detection or read depth; however, sensitivity can be lower than gene-targeted deletion/duplication analysis.

To date, a few large intragenic deletions have been reported in individuals with CSF1R-related disorder [Ishiguro et al 2023].