SAMS Association (SAMHD1) Targeted Testing

AKA: Aicardi-Goutieres Syndrome 5
Short Name: SAMHD1 Targeted

SAMS Association (AKA Aicardi-Goutieres Syndrome 5) 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.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 612952
MedGen: 413116