TMCO1 Defect Syndrome (TMCO1) Targeted Testing

AKA: Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome-1
Short Name: TMCO1 Targeted

TMCO1 defect syndrome is an autosomal recessive condition characterized by distinctive craniofacial dysmorphism, skeletal anomalies and impaired intellectual development. A homozygous frameshift variant, c.292_293delAG, (p.Ser98*), in the TMCO1 gene was identified as the genetic cause of the described disease in a large Old Order Amish pedigree. This targeted test will specifically analyze the c.292_293delAG variant.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 213980
MedGen: 1808104