Diagnosis & Testing

At this link Fabry Disease Testing Labs you can find labs that perform full DNA sequence analysis and enzyme assay analysis, as well as other tests. Select the Human Tests tab and enter "GLA" into the search field. 

A GLA gene test is performed to diagnose Fabry disease. Males with Fabry disease can usually be diagnosed via an enzyme assay test. Males with classic Fabry disease essentially have no alpha-galactosidase A enzyme (less than 1% of normal). Males with a non-classic Fabry gene mutation will have some enzyme but it is still very low.

Females can have near normal levels of enzyme so an enzyme assay is not sufficient for a diagnosis. DNA sequence analysis must be performed.

All immediate and extended family members in the same family have the same family GLA gene varient. If one member of a family has DNA sequence analysis performed to determine the family variant, other members of the same family can be diagnosed by performing a targeted sequence analysis rather than testing the whole gene. Targeted sequencing is usually quicker and less expensive to perform. 

One study reported that for every first diagnosis in a family, on average 5 more family immediate and extended family members are diagnosed.

Among others, Emory Genetics Lab and Duke University Medical Center offer testing, but also perform Lyso Gb3 analysis which is emerging as a potentially useful test.