Alpha-galactosidase A - EDTA whole blood spot on Guthrie card Referred Test

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Eurofins Biomnis code

ALGAL

Synonyms
  • Angiokeratoma corporis diffusum
  • Fabry - disease
  • Fabry's disease
Specialty

Biochemistry

Clinical 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).

Preanalytics
  • A tube specifically for this analysis : No
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

1 month

Testing Laboratory

Refered Test

Contact(s)
Customer Care
Caption

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