vitro protein synthesis assay:
)NA from peripherai blood is analyzed for a truncatd PC gene producL
lis should be berformed oniy after the patiem rect s ■netic counsciing from a traincd indiviaual.
-cąusęof thesizeof the AF.Cprotein, itis anaiyzed 5 erlapping segments.
the proband has a mutation, other family member utat1onStCd ^ftCr 8enetic COunseHng) for the ideniit