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HomeServicesTest guideAlpha-galactosidase A - EDTA whole blood spot on Guthrie card
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Alpha-galactosidase A - EDTA whole blood spot on Guthrie card Refered Test

Other tests

Eurofins Biomnis code

ALGAL

Synonyms

  • Angiokeratoma corporis diffusum
  • Fabry - disease
  • Fabry's 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).

Pre-analytical

  • 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)

Specific equipment available

K16 : blotting paper


Methodology

Spectrofluorimetry

Turn around Time

6 weeks


Pathologist(s) in charge
Refered Test
Specialty
Analytical Chemistry
Contact(s)
Dr Estelle BUGNI
Dr Gilles PANTEIX
Phone(s)
+334 72 80 23 47
+334 72 80 10 41

Caption

Refered TestThe pre-analytical conditions and prices are defined on the basis of the requirements of the performing laboratory.

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