Niemann-pick types a/b
How good is the genetic testing for Niemann-Pick disease (SMPD1-associated) at finding changes/mutations in SMPD1?
Each specific genetic test performs differently when looking for changes in SMPD1. However, sequence analysis, which reads the SMPD1 gene code from start to finish to look for spelling mistakes, finds 95% of the genetic changes/mutations. In other words, 95% of people who have low levels of acid sphingomyelinase, the enzyme involved in Niemann-Pick disease (SMPD1-associated), will have a SMPD1 change/mutation found by sequence analysis.