Table 1.

Summary of Molecular Genetic Testing Used in Fabry Disease

Gene 1Test MethodMutations Detected 2Mutation Detection Frequency by Test Method 3
Affected Males Carrier Females
GLASequence analysis 4Sequence variants 5~100% 6, 7<100% 8
Targeted mutation analysisc.427G>C 9100% for the targeted variant
Duplication/deletion analysis 10Partial- and whole-gene deletionsSee footnote 11

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. For issues to consider in interpretation of sequence analysis results, click here.


A common normal variant, p.Asp313Tyr (see Molecular Genetics, Benign allelic variants), originally reported at a frequency of 0.45% [Yasuda et al 2003a], has been reported to be tenfold higher by others [Gal et al 2006]. This may explain why this variant has been reported in up to 5% of males with an additional pathogenic mutation.


Lack of amplification by PCRs prior to sequence analysis can suggest a putative deletion of one or more exons or the entire X-linked gene in a male; confirmation may require additional testing by deletion/duplication analysis.


Includes the mutation detection frequency using deletion/duplication analysis.


Sequence analysis of genomic DNA cannot detect deletion of one or more exons or the entire X-linked gene in a heterozygous female.


Targeted analysis for the c.427G>C mutation may be appropriate where the prevalence of that mutation is high.


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.


Deletion/duplication analysis can be used (a) to confirm a putative exonic/whole-gene deletion in males after failure to amplify by PCR in sequence analysis and (b) to identify partial- and whole-gene deletions in females.

From: Fabry Disease

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