Troyer Syndrome (SPG20) Targeted Testing

AKA: Autosomal Recessive Spastic Paraplegia-20
Short Name: SPG20 Targeted

Troyer syndrome is an autosomal recessive disorder characterized by progressive spastic paraparesis complicated by dysarthria, distal amyotrophy, mild developmental delay and short stature. It occurs with high frequency in the Old Order Amish. A single nucleotide deletion, c.1110delA (p.Lys370Asnfs*30), in exon 4 of the SPG20 gene is the most frequent pathogenic variant found in Amish population. This targeted test will specifically analyze the c.1110delA variant.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 275900
MedGen: 97950