VariFind™ LSDs Assay
NGS-based assay for detection of clinically significant genetic variants in 19 genes associated lysosomal storage disorders.
Assay information
Genes

GALNS
GLB1
GNS
HGSNAT
IDS
IDUA
NAGLU
SGS


ARSA
GALC
GBA
GLA
GLB1
HEXA
HEXB
NPC1
NPC2
SMPD1
LIPA

GAA
Disorders
Mucopolysaccharidoses
Mucopolysaccharidosis type IV A (Morquio A)
Mucopolysaccharidosis type IV B (Morquio B)
Mucopolysaccharidosis type III D (Sanfilippo D)
Mucopolysaccharidosis type III C (Sanfilippo C)
Mucopolysaccharidosis type II (Hunter)
Mucopolysaccharidosis type I (Hurler-Scheie)
Mucopolysaccharidosis type III B (Sanfilippo B)
Mucopolysaccharidosis type III A (Sanfilippo A)
Sphingolipidoses
Metachromatic leukodystrophy
Krabbe
Gaucher
Fabry
GM1 gangliosidosis
GM2 gangliosidosis type 1 (Tay-Sachs)
GM2 gangliosidosis type 2 (Sandhoff)
Niemann-Pick C1/D
Niemann-Pick C2
Niemann-Pick A/B
Lysosomal acid lipase deficiency (Wolman)
Glycogen storage disorders
Glycogen storage disease type II (Pompe)
Analyzed region
CDSs + 20 bp padding
Target region size
84 kb
Number of amplicons
310 amplicons in 2 Pools
Coverage
99.25 %
Platform
Illumina MiSeq Series
Product composition
Reagents kit
Targeted enrichment , library preparation, molecular barcoding
VariFind™ Software for
MPS data analysis & variants annotation
Assay workflow
NGS Libraries Preparation
Sequencing
Automated data analysis & annotation
Report generation
Made on
Tilda