Rapid genetic testing for Gaucher disease by reverse hybridization.
BACKGROUND
We evaluated a reverse hybridization method for the simultaneous detection of nine mutations that are associated with Gaucher disease.


CONCLUSIONS
Results were in agreement with those obtained by a polymerase chain reaction-restriction digestion method. The hybridization method produced results more quickly and with less operator input.
Halsall
David J
DJ
Department of Clinical Biochemistry, Addenbrooke's NHS Trust, Hills Road, Cambridge, UK. djh44@hermes.camac.uk
Kriegshäuser
Gernot
G
Moritz
Anne
A
Elsey
Terence S
TS
Oberkanins
Christian
C
D005776:Gaucher Disease / Q000175:diagnosis*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D009693:Nucleic Acid Hybridization; D017354:Point Mutation; D016133:Polymerase Chain Reaction