CeGaT uses a particular MLPA method for testing for so-called “silent carriers” for spinal muscular atrophy and already performs this as standard within the Family Planning Panel. This MLPA method takes advantage of certain polymorphisms in the genome that are associated with an increased risk of “silent carrier” status.
In couples who wish to have children, an increased risk of a hidden carrier can be detected. If necessary, appropriate precautionary measures can be taken. CeGaT complies with the latest international workflow recommendations for spinal muscular atrophy.
Reference
Milligan, Blasco-Pérez et al. “Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows”, September 2022, PMID: 36140824.