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Lysosomal Storage Disorders NGS Panel – full gene sequencing

Requires patient informed consent

Profile details

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.



Sample Reqs

AA [9]


4-6 weeks

Special instructions

[9] Clinical history must be provided.

Sample type guide


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

Related specialties

Updated Wednesday, 06 December 2023