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Table 1. Summary of Molecular Genetic Testing Used in Hypokalemic Periodic Paralysis

Gene SymbolTest MethodMutations DetectedProportion of HOKPP Diagnosed with This Test Method
CACNA1STargeted mutation analysisp.Arg528His, p.Arg1239His, p.Arg1239Gly, p.Arg528Gly p.Arg897Ser 155%-70%
Sequence analysis of exons 11, 21 and 30 2Sequence variants 355%-70%
Sequence analysis of entire coding regionSequence variants 3Unknown
SCN4ATargeted mutation analysisp.Arg669His, p.Arg672Ser, p.Arg672His, p.Arg672Gly, p.Arg672Cys p.Arg1132Gln 48%-10%
Sequence analysis exon 12 and 18Sequence variants 38%-10%
Sequence analysis of entire coding regionSequence variants 3Unknown

1. Mutations tested may vary among laboratories.

2. Exons sequenced may vary among laboratories.

3. Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site mutations.

4. Includes, but not limited to, detection of variants p.Arg669His, p.Arg672Ser, p.Arg672His, p.Arg672Gly, p.Arg672Cys, p.Arg1132Gln. Mutations detected may vary among laboratories.

From: Hypokalemic Periodic Paralysis

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