Aicardi-Goutieres type 5 (AKA SAMS Association) is an autosomal recessive disorder characterized with cerebral vasculopathy and early onset of stroke. The phenotype is highly heterogeneous with a wide range of clinical manifestations and considerably diverse clinical presentations, including cerebral palsy, stroke, developmental delay, failure to thrive, irritability, chilblains and arthritis. The c.1411-2A>G variant at the splice-acceptor site of intron 12 in the SAMHD1 gene is the most frequent pathogenic variant found in the Amish population. This test will specifically analyze the c.1411-2A>G variant.
1 - 2 weeks