TPP1

OMIMHGNC

Synonym(s): CLN2, SCAR7

Locus: 11p15.4

Protein: Adrenocortical dysplasia protein homolog

 

Disorders

Tests

Test Type Method Laboratory
TPP1-Related Neuronal Ceroid-Lipofuscinosis Test◦ Molecular
◦ Sequencing, Capillary
Massachusetts General Hospital, Neurogenetics DNA Diagnostic Laboratory - Boston, MA, USA
Tripeptidyl-peptidase 1 deficiency (TPP1) Test◦ Molecular
◦ Sequencing, Capillary
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic