Table 1.

Molecular Genetic Testing Used in Pseudoxanthoma Elasticum

Gene 1Test MethodsVariants Detected 2Variant Detection Frequency 3
ABCC6Sequence analysis 4Sequence variants~90% 5
Sequence analysis of select exonsSequence variants located in select exons 6Unknown
Deletion/duplication analysis 7The recurrent deletion of exons 23-29 8 and other exon or whole-gene deletions5%-30% depending on population

See Molecular Genetics for information on allelic variants.


The ability of the test method used to detect a variant that is present in the indicated gene


Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. 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.


Sequence analysis detects pathogenic missense variants, the most prevalent pathogenic variants in ABCC6 [Le Saux et al 2001, Pfendner et al 2007], as well as pathogenic nonsense variants, frameshift variants, and small deletions and insertions, which have also been described.


Exons sequenced may vary by laboratory.


Testing that identifies deletions/duplications not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA. Methods used may include: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.


A 16.4-kb deletion involving ABCC6 exons 23-29 is a recurrent pathogenic variant found in multiple populations with varying frequency. It represents approximately 30% of alleles in the US and about 5% of alleles in Europe [Le Saux et al 2001].

From: Pseudoxanthoma Elasticum

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