Table 1.

Molecular Genetic Testing Used in Krabbe Disease (Galactosylcerebrosidase Deficiency)

Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method
GALC Sequence analysis 355%-65% 4
Targeted analysis for 30kb del35%-45% 5
Gene-targeted deletion/duplication analysis 6See footnote 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.

This large deletion accounts for approximately 35% of the pathogenic variants in individuals with Krabbe disease of Mexican heritage [D.Wenger, personal experience] and 45% of the pathogenic variants in individuals with Krabbe disease of European ancestry [Luzi et al 1995, Rafi et al 1995].

6.

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.

7.

Deletions involving single exons and multiple exons, other than the common 30-kb deletion, are rare but have been reported [Wenger et al 2001, Tanner et al 2012].

From: Krabbe Disease

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