Progressive Myoclonic Epilepsy Panel

Test Information
Test Name Progressive Myoclonic Epilepsy Panel
Lab (Location) London Health Sciences Centre
Category Neurogenetics
Subcategory Progressive Myoclonic Epilepsy
Gene/Platform/Region List ASAH1, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, EPM2A, GOSR2, GRN, KCNC1, KCTD7, MFSD8, NEU1, NHLRC1, PPT1, SCARB2, SERPINI1, SGCE, TPP1
Test type Gene Panel
Samples Accepted Blood, DNA
Indications Diagnosis Diagnosis, Carrier / Cascade Testing, Prenatal
Test Methodology CNV, Sequencing
Methodology Notes Sequencing + CNV
Diseases/Conditions Epilepsy