Alpha-galactosidase A - EDTA whole blood spot on Guthrie card Refered Test
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ALGAL
Synonyms
- Fabry's disease
- Angiokeratoma corporis diffusum
- Fabry - disease
Clinic significance
Lysosomal hydrolase, involved in the catabolism of glycosphingolipids. A deficiency is the cause of Fabry's disease or universal diffuse angiokeratosis, with sex-related recessive transmission (alpha-galactoside A gene in Xq 22).
Prenalytics
- Ambient temperature
- Biomnis Paris : EDTA whole blood spot on Guthrie card
Further information
- Enclose the specific clinical information form (R26-INTGB : Metabolic Biochemistry)
- Check the specific protocol for sampling and storage (K16P)
- stability 7 days ambiant
Specific equipment available
K16 : blotting paper
Documents to download
Methodology
Spectrofluorimetry
Turnaround time
6 weeks
Pathologist(s) in charge
Refered Test
Specialty
Biochemistry
Contact(s)
Dr Gilles PANTEIX
Dr Laurence PELLEGRINA
Dr Laurence PELLEGRINA
Phone(s)
+334 72 80 10 41
+334 72 80 23 05
+334 72 80 23 05
Caption
Refered TestThe pre-analytical conditions and prices are defined on the basis of the requirements of the performing laboratory.
