Female Samples
Fabry disease is X-linked but females can still be affected. There is
overlap at the lower end of the α-galactosidase A activity reference
range between affected and unaffected cases so a biomarker is also used.
Samples from females only were sent to ARCHIMEDlife laboratories
(Vienna, Austria) for assay of α-galactosidase A activity and
Lyso-globotriaosylceramide (lyso-GL-3), a biomarker that is increased in
Fabry disease, by Tandem mass spectrometry8. Results
from the female samples showing either a low enzyme activity, increased
lyso-GL-3 or both resulted in genetic sequence testing. α-galactosidase
activity below the reference interval for females (1.2 – 50.0 µmol/l
/hr) or Lyso-GL-3 above the reference limit (0-3.5ng/ml) were considered
significant. (comment: ref interval for a gal enzyme activity analysed
for the female samples at Archimed changed about the start of June 2019
to 2.8 - 50.0 umol/l/hr, as per letter issued, so if there are any
samples that were sent for analysis after this timeframe the new range
will have been used).