Table 1.

Molecular Genetic Testing Used in LRRK2 Parkinson Disease

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
LRRK2 Sequence analysis 3~100% 4
Gene-targeted deletion/duplication analysis 5See footnote 6.
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 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.

4.

LRRK2-PD is defined by the presence of a pathogenic variant in LRRK2; thus, the pathogenic variant detection rate approaches 100% for nucleotide changes, small deletions/insertions, and pathogenic variants in splice site consensus motifs.

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.

To date, no deletions or duplications involving LRRK2 have been reported to cause LRRK2 Parkinson disease [Mata et al 2005a, Di Fonzo et al 2006].

7.

Homozygous p.Gly2019Ser cases are not phenotypically different from heterozygous cases [Ishihara et al 2006, Ben Romdhan et al 2018].

From: LRRK2 Parkinson Disease

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