Cortical Dysplasia and Focal Epilepsy Syndrome (CNTNAP2) Targeted Testing

AKA: Pitt-Hopkins-Like Syndrome-1
Short Name: CNTNAP2 Targeted

Cortical dysplasia and focal epilepsy syndrome is an autosomal recessive disorder characterized primarily by cortical dysplasia, intractable focal seizures, relative macrocephaly and diminished deep-tendon reflexes. A homozygous single-base deletion, c.3709delG (p.Asp1237IIefs*17) in exon 22 of the CNTNAP2 gene was identified as the genetic cause of this disorder in a large group of Old Order Amish patients. This targeted test will specifically analyze the c.3709delG pathogenic variant.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 610042
MedGen: 413258