Table 2.

Summary of Molecular Genetic Testing Used in Hereditary Coproporphyria

Gene 1Test MethodMutations Detected 2Mutation Detection Frequency by Test Method 3
CPOXSequence analysisSequence variants 429/31 5
Deletion / duplication analysis 6 Exonic or whole-gene deletionsSee footnote 7

See Table A. Genes and Databases for chromosome locus and protein name.


See Molecular Genetics for information on allelic variants.


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


Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site mutations; typically, exonic or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.


Sequence analysis found a mutation in 29 of 31 (94%) individuals with the clinical and biochemical diagnosis of HCP [Whatley et al 2009].


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


To date, a 13-kb deletion extending from exon 4 to the 3’UTR [Whatley et al 2009] and a 1.3-kb deletion spanning exon 5 (found in four Swedish families) [Barbaro et al 2012] have been reported.

From: Hereditary Coproporphyria

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