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.

Code

LSDS

Sample Reqs

AA [9]

Turnaround

4-6 weeks

Special instructions

[9] Clinical history must be provided.