A      Lavender Vacutainer, EDTA anticoagulant, 4ml/6ml (6ml EDTA tubes are used for specific PCR assays)

Requires patient informed consent

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This is a 55 gene custom NGS panel which can be used to detect both pathogenic SNP/ Indels and copy number variants (including whole exon insertions / deletions) which cause the various Lysosomal storage disorders.

All known lysosomal storage diseases are covered on this panel including:

Fabry disease, Gaucher disease, Pompe disease, metachromatic leukodystrophy, all the different mucopolysaccharidoses, fucosidosis, Krabbe disease, Tay-Sachs disease, Sandhoff disease, Danon disease, lysosomal acid lipase deficiency, Niemann-Pick disease types A, B and C, lipfuscinoses, prosaposin deficiency and Salla disease.