TY  - JOUR
A1  - Sakallah, S A
A1  - Sansieri, C
A1  - Kopp, D W
A1  - Cooper, D L
A1  - Barranger, J A
T1  - A new diagnostic test for Gaucher disease suitable for population screening.
Y1  - 1994/08/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 1 
EP  - 5 
VL  - 4 
IS  - 1 
UR  - http://genome.cshlp.org/content/4/1/1.abstract 
N2  - A new test for the diagnosis of Gaucher disease is described. The test is designed to screen large numbers of clinical specimens from high-risk populations. It consists of duplex PCR amplification of genomic DNA followed by hybridization to alkaline phosphatase-conjugated allele-specific oligonucleotide probes (ASOs). High melting temperature PCR primers were used to increase specificity and eliminate the need for a separate annealing step. All hybridization and washing steps were performed at one temperature. Chemiluminescent detection of signals is fast, and results are easily interpreted directly from x-ray films. Currently, the test is being used in our laboratories to screen Ashkenazi Jewish populations in whom Gaucher disease is common. 
ER  -