Fabry Disease 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. 

A GLA gene test is performed to diagnose Fabry disease. Males with Fabry disease can usually be diagnosed via an the 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 mutation. If one member of a family has DNA sequence analysis performed to determine the family mutation, 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.

insurance usually covers Fabry testing but Mt. Sinai School of Medicine (MSSM), Emory Genetics Laboratory, and Duke University Medical Center provide free testing as noted. MSSM often requires a slit lamp eye examination first. Emory requires the family mutation be known.

Emory Genetics Lab and Duke University Medical Center also perform Lyso Gb3 analysis which is emerging as a potentially useful test.

 

 

 

We Need Your Help

As a IRS 501(c)(3) non-profit support organization we rely on donations from organizations and individuals to provide meaningful support and assistance programs to people/families with Fabry disease. Please give generously!  

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Thank you to our corporate and foundation sponsors as well as our many individual donors. Contributions of all sizes add up to make a tremendous difference.

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