Metachromatic Leukodystrophy

Test Information
Test Name Metachromatic Leukodystrophy
Lab (Location) Hamilton Health Sciences Centre
Category Metabolic
Subcategory Metachromatic Leukodystrophy
Gene/Platform/Region List ARSA
Test type Single Gene
Samples Accepted Blood, DNA, Cultured Cells, Amniocyte, CVS
Indications Diagnosis Diagnosis, Carrier / Cascade Testing, Prenatal
Test Methodology Sequencing
Methodology Notes Direct Exon Sequencing
Diseases/Conditions Metachromatic Leukodystrophy (MLD), Arylsulfatase A Deficiency, ARSA Deficiency, Greenfield's disease