Table 1.

Molecular Genetic Testing Used in PRRT2-Associated Paroxysmal Movement Disorders

Gene 1Test MethodProportion of Probands with a Pathogenic Variant 2 Detectable by This Method 3
PRRT2 Sequence analysis 499%
Gene-targeted deletion/duplication analysis 5<1%
CMA 6<1%
1.
2.

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

3.
4.

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.

5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods that may be used 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. These methods will detect single-exon up to whole-gene deletions; however, breakpoints of large deletions and/or deletion of adjacent genes, such as the 16p11.2 recurrent deletion, may not be defined by these methods.

6.

Chromosomal microarray analysis (CMA) using oligonucleotide or SNP arrays detects copy number variants and defines breakpoints of large deletions, including the 16p11.2 recurrent deletion.

From: PRRT2-Associated Paroxysmal Movement Disorders

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