HPRT1

OMIMHGNC

Synonym(s): HGPRT, HPRT

Locus: Xq26.2

Protein: HPRT1 protein

 

Disorders

Tests

Test Type Method Laboratory
Autism Spectrum Disorders Test◦ Panel
◦ Molecular
◦ Sequencing, Next Gen
ApolloGen, Inc. - Irvine, CA, USA
Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) DeficiencyTest◦ Molecular
◦ Sequencing, Capillary
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic