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Leukodystrophies

Disease (gene) Method Material Processing time
Adrenoleukodystrophy (ABCD1) Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Aicardi-Goutieres Syndrome 1 (TREX1)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Alexander disease (GFAP)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
CADASIL (NOTCH3) 1. Sequencing exons 2-6, 11
2. Sequencing (complete)
EDTA blood / DNA 1. 1-2 weeks
2. 2-3 weeks
Canavan disease (ASPA) Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Cerebrotendinous xanthomatosis (CYP27A1)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (DARS2)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Leukoencephalopathy with vanishing white matter (EIF2B (1-5))* Sequencing (complete): EIF2B5>EIF2B4>EIF2B2>EIF2B3>EIF2B1 EDTA blood / DNA 2-3 weeks/gene
Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC1)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Pelizaeus-Merzbacher disease (PLP1)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Pelizeaus-Merzbacher-like disease 1 (GJA12)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Peroxisomal acyl-CoA oxidase deficiency (ACOX1)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Tuberous sklerosis 1 (TSC1) Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Tuberous sklerosis 1 (TSC2) Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Wolman disease (LIPA)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
* analysis currently not accredited

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