TMPRSS6 Sequencing

Test Background

Patients with iron-refractory iron deficiency anemia have anemia that does not respond to oral iron therapy, but is partially responsive to parenteral iron administration. The main features include: congenital hypochromic, microcytic anemia; very low mean corpuscular erythrocyte level; low transferrin saturation; abnormal iron absorption marked by no hematological improvement following treatment with oral iron; and abnormal iron utilization marked by delayed, incomplete response to parenteral iron. This condition is inherited in an autosomal recessive manner.

This laboratory performs Sanger sequencing of the TMPRSS6 gene.

Gene(s): 

TMPRSS6

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.