Table 1.

Molecular Genetic Testing Used in Glycogen Storage Disease Type II

Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method
GAA Sequence analysis 383%-93% 4
Gene-targeted deletion/duplication analysis 55%-13% 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 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.

Detection rate of two pathogenic variants in sequencing of the genomic DNA in individuals with confirmed reduced or absent GAA enzyme activity [Hermans et al 2004, Montalvo et al 2006].

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.

Deletion of exon 18 comprises approximately 5%-7% of alleles [Van der Kraan et al 1994]. Although other exon and multiexon deletions have been reported, they are rare [McCready et al 2007, Pittis et al 2008, Bali et al 2012, Amiñoso et al 2013].

From: Pompe Disease

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