Table 2.

Molecular Genetic Testing Used in EPB42-Related Hereditary Spherocytosis

Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
EPB42 Sequence analysis 3100% 4
Gene-targeted deletion/duplication analysis 5See footnote 6.
1.

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

2.

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

3.

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.

4.

Kanzaki et al [1997], Toye et al [2008], and data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

5.

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.

6.

The only gross deletion reported to date is a deletion of 32 base pairs [Hammill et al 2011] that is expected to be detectable by sequence analysis.

From: EPB42-Related Hereditary Spherocytosis

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