Table 1.

Molecular Genetic Testing Used in Hyperkalemic Periodic Paralysis (hyperPP)

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
SCN4A Sequence analysis 3~66% 4
Gene-targeted deletion/duplication analysis 5None reported 4
Unknown 6NA
1.
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.

Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2017]

5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include 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.

In a clinical setting in about one third of individuals with a typical phenotype of hyperPP, no pathogenic variant in SCN4A or in any other gene is identified on molecular genetic testing.

From: Hyperkalemic Periodic Paralysis

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