Diagnostic Services for Neuronal Ceroid Lipofuscinoses

A complete diagnostic program
From enzymatic to genetic testing from the same Dried Blood Spot.

CLN - NCL Diagnostics

Available enzymatic tests:

Disease Enzyme
Neuronal Ceroid Lipofuscinosis 1 Palmitoyl protein thioesterase
Neuronal Ceroid Lipofuscinosis 2 Tripeptidyl peptidase I

Available genetic tests:

Disease Gene
Neuronal Ceroid Lipofuscinoses PPT1, TPP1, CLN3, DNAJC5, CLN5, CLN6, MFSD8, CLN8, CLN9, CTSD, GRN, ATP13A2, CTSF, KCTD7