GM3 Synthase Deficiency (ST3GAL5) Targeted Testing

AKA: Salt and Pepper Developmental Regression Syndrome; Amish Infantile Epilepsy Syndrome
Short Name: ST3GAL5 Targeted

Ganglioside GM3 synthase deficiency is a rare autosomal recessive infantile-onset symptomatic epilepsy syndrome associated with developmental stagnation and cortical blindness. Affected children completely lack GM3 and its downstream biosynthetic derivatives but have increased levels of the immediate precursor to GM3, lactosylceramide. A homozygous nonsense variant, c.862C>T (p.Arg288*), was identified in the ST3GAL5 gene of a large Old Order Amish family. This targeted test will specifically analyze the c.862C>T pathogenic variant in the Old Order Amish population.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 609056
MedGen: 323005