Skip to main content
. 2013 Feb 1;36(2):293–307. doi: 10.1007/s10545-013-9587-1

Table 6.

Current rate of diagnostic challenges arising from molecular analysis for MPS IVA

Laboratorya # of patients (alleles) analyzed Frequency of patients (alleles) with novel mutations Frequency of enzymatically confirmed MPS IVA patients (alleles) lacking one or more pathogenic mutations
Adelaide laboratory 17 (34) 35 % (26 %) 0 (0)
Willink biochemical genetics laboratory 89 (178) 45 % (34 %) 10 % (5 %)
Greenwood Genetic Center 6 (12) 50 % (42 %) 16 % (8 %)

aLocal population genetics affect the variety of mutations seen and detection rates