Osteogenesis Imperfecta-14 (TMEM38B) Targeted Testing

Short Name: TMEM38B Targeted

Osteogenesis imperfecta type 14 (OI) is an autosomal recessive disorder caused by a pathogenic variant in the TMEM38B gene. OI is a connective tissue disorder. It is characterized by bone fragility and low bone mass. OI-14 is characterized by variable degrees of severity of multiple fractures and osteopenia with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6. The c.799G>A (p.Val267Ile) variant in the TMEM38B gene has been reported in the Amish and is specifically analyzed by this targeted test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 615066
MedGen: 767342