Table 1.

Molecular Genetic Testing Used in Aceruloplasminemia

Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
CP Sequence analysis 3>94% 4
Gene-targeted deletion/duplication analysis 5Unknown 6
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.

Individuals of Japanese heritage [Miyajima et al 1999]. Sequence analysis identifies at least one pathogenic variant in all individuals with abnormal low-intensity areas in both the basal ganglia and liver on MRI [Kono & Miyajima 2015].

5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may 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.

6.

Rare single-exon deletions have been reported [Pelucchi et al 2018]. No data on detection rate of gene-targeted deletion/duplication analysis are available.

From: Aceruloplasminemia

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