COL1A1 Sequencing

Test Background

Mutations in COL1A1 and COL1A2 are associated with osteogenesis imperfecta (OI) types I, II, III, and IV and Ehlers Danlos syndrome arthrochalasia type also known as types VIIA and VIIB (EDS VIIA and VIIB). Both conditions are inherited in an autosomal dominant manner.

EDS VIIA/B is characterized by congenital hip dislocation, extreme joint laxity, recurrent joint subluxations, and minimal skin involvement typically velvety, hyperextensible skin. Other possible features include short stature, mild bone fragility leading to fractures, kyphoscoliosis, hypotonia, and delayed gross motor skills.

This laboratory performs Sanger sequencing of both the COL1A1 and COL1A2 genes

Gene(s)

COL1A1

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.