KPTN Disorder (KPTN) Targeted Testing

AKA: Autosomal Recessive Intellectual Developmental Disorder-41; Macrocephaly-Developmental Delay Syndrome; KPTN Defect Syndrome

Short Name: KPTN Targeted

KPTN defect syndrome is a rare autosomal recessive disorder characterized by macrocephaly, high level of anxiety, seizures, and global developmental delay (MASD). Two variants in exon 8 of the KPTN gene, c.714_731dup (p.Met241_Gln246dup) and c.776C>A (p.Ser259*), have been identified as the genetic cause of the described condition in Old Order Amish patients. This targeted test will specifically analyze these two variants.

CPT Code: 81403

Turn-Around Time: 1-2 weeks