From: Suggested guidelines for the diagnosis and management of urea cycle disorders
Disorder | Recommended tests |
---|---|
NAGSD | Mutation analysis using DNA from CVS or AFCa |
CPS1D | Mutation analysis using DNA from CVS or AFC |
 | Enzyme assay in late fetal liver biopsyb |
OTCD | Mutation analysis using DNA from CVS or AFC c |
 | Enzyme assay in late fetal liver biopsyb,d |
ASSD | Mutation analysis using DNA from CVS or AFC |
 | Citrulline in amniotic fluid |
 | Enzyme assay in intact or cultured CVS or in cultured AFC |
ASLD | Mutation analysis using DNA from CVS or AFC |
 | Argininosuccinate and its anhydrides in amniotic fluid |
 | Enzyme assay in intact or cultured CVS or cultured AFC |
ARG1D | Mutation analysis using DNA from CVS |
 | Enzyme assay in fetal blood erythrocytes (mid-gestation sampling) |
HHH syndrome | Mutation analysis using DNA from CVS or AFC |
 | Enzyme assay in CVS or cultured AFC |