RT Journal
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.
JF Genome Research 
JO Genome Research 
YR 1994 
FD August 01 
VO 4 
IS 1 
SP 1 
OP 5 
UL http://genome.cshlp.org/content/4/1/1.abstract 
AB 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.