Table 1.

Molecular Genetic Testing Used in Glycogen Storage Disease Type V

Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
PYGM Sequence analysis 399% 4
Gene-targeted deletion/duplication analysis 5Unknown 6, 7
1.
2.

See Molecular Genetics for information on allelic 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.
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.

No data on detection rate of gene-targeted deletion/duplication analysis are available.

7.

A 1,094-bp deletion variant, c.1969+214_2177+369del, extends from intron 16 to intron 17 [García-Consuegra et al 2009].

From: Glycogen Storage Disease Type V

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