Panel 6: Leukodystrophies


Includes:

All lysosomal and peroxisomal disorders that present with leukodystrophy, leukoencephalopathy with vanishing white matter leukodystrophy hipomielinizante, Aicardi Goutieres, neurodegeneration with brain iron accumulation syndrome and others.

The leukodystrophies destroy the central nervous system (brain and spinal cord) in children and adults. Affects myelin, the white matter surrounding the nerves as an insulating sheath.

Occurs when a leukodystrophy, myelin and cannot correctly carries messages along nerves. Or not form myelin, deteriorates, or too abundant.

NMG6: Leukodystrophies

Panel 6: Leukodystrophies
Panel 6: Leukodystrophies 2

Included genes:

ASPA PLP1 TREX1 C19ORF12
GFAP GJC2 RNASEH2B PANK2
MLC1 AIMP1 RNASEH2C PLA2G6
HEPACAM HSPD1 RNASEH2A COASY
RNASET2 FAM126A SAMHD1 FTL
EIF2B1 LMNB1 ADAR CP
EIF2B2 POLR3A TREX1 CLCN2
EIF2B3 POLR3B SOX10
EIF2B4 DARS CTC1
EIF2B5 PLP1 FA2H

Download pdf panel:

pdf filePanel 6: Leukodystrophies