Cohen Syndrome (VPS13B) Targeted Testing

AKA: Pepper Syndrome; Hypotonia, Obesity, and Prominent Incisors

Short Name: VPS13B Targeted

Cohen syndrome is an autosomal recessive disorder characterized by nonprogressive mild to severe psychomotor retardation, motor clumsiness, microcephaly, characteristic facial features, childhood hypotonia and joint laxity, progressive retinochoroidal dystrophy, myopia, intermittent isolated neutropenia, and a cheerful disposition. The c.9260dupT (p.Leu3087Phefs*20) variant in exon 51 of the VPS13B gene is the most frequent pathogenic variant for Cohen syndrome found in the Old Order Amish population. The targeted test will specifically analyze the c.9260dupT variant.

CPT Code: 81403

Turn-Around Time: 4 weeks