GALT Sequencing

Test Background

Mutations in the GALT gene encoding Galactose-1-phosphate uridylyl transferase are the most common cause of galactosemia, an autosomal recessive inborn error of metabolism. The cardinal features of classic galactosemia are hepatomegaly, cataracts, and mental retardation. Failure to thrive is the most common initial clinical symptom of galactosemia. Children with galactosemia require a special diet.

Most cases of galactosemia are caused by sequence variants; however, occasionally there are deletions involving all or part of the GALT gene. This laboratory performs both Sanger sequencing of the GALT gene and deletion/duplication by MLPA.

Disorder(s)

Galactosemia

Gene(s): 

GALT

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.