Microcephaly with Chorioretinopathy-1 (TUBGCP6) Targeted Testing

Short Name: TUBGCP6 Targeted

Microcephaly with chorioretinopathy-1 is characterized by visual impairment and delayed psychomotor development. It is often accompanied by short stature. The autosomal recessive condition is caused by the c.5458T>G (p.Cys1820Gly) missense variant in the TUBGCP6 gene. This variant will be specifically analyzed during the targeted test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 251270
MedGen: 480111