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Lysosomal storage diseases

Disease (gene) Method Material Processing time
Alpha mannosidosis (MAN2B1)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Beta mannosidosis (MANBA)* Sequencing (complete) EDTA blood / DNA 3-4 weeks
Fabry disease (GLA) Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Fucosidosis (FUCA1)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Gaucher disease (GBA)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Glycogen Storage disease 2 (GAA)* 1. Sequencing (complete)
2. PCR Analyse (exon 18 Deletion)
EDTA blood / DNA 1. 2-3 weeks
2. 8-10 days
Glycogen Storage disease 5 (PYGM)* 1. Sequencing exon 1 (R50X) & exon 5 (G205S)
2. Sequencing (complete)
EDTA blood / DNA 1. 1-2weeks
2. 2-3weeks
GM1 Gangliosidosis (GLB1)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Krabbe disease (GALC)* 1. PCR Analyse (30kb Deletion)
2. Sequencing (complete)
EDTA blood / DNA 1. 1-2weeks
2. 2-3weeks
Metachromatic Leukodystrophy (ARSA)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Mucopolysaccharidosis 1H/S (IDUA)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Mucopolysaccharidosis 2 (IDS)* Sequencing (complete) & MLPA EDTA blood 2-3 weeks
Mucopolysaccharidosis 3A (SGSH)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Mucopolysaccharidosis 3B (NAGLU)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Mucopolysaccharidosis 3C (HGSNAT)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Mucopolysaccharidosis 3D (GNS)* Sequencing (complete) EDTA blood / DNA 3-4 weeks
Mucopolysaccharidosis 4A (GALNS)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Mucopolysaccharidosis 4B (GLB1)* Sequencing (complete) EDTA blood / DNA 3-4 weeks
Mucopolysaccharidosis 6 (ARSB)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Mucopolysaccharidosis 7 (GUSB)* Sequencing (complete) EDTA blood / DNA 2-3 weeks
Mucopolysaccharidosis 9 (HYAL)* Sequencing (complete) EDTA blood / DNA 3-4 weeks
Mucolipidosis 2 (GNPTAB)* Sequencing (complete) EDTA blood / DNA 3-4 weeks

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