Custom Lysosomal Storage Disorders Panel

Introduction

Lysosomal storage disorders (LSDs) are hereditary metabolic diseases caused by the deficiency of enzymes, activators, transporters or lysosomal protein processing and correcting enzymes in the lysosome, resulting in lysosomal functional defects and the inability to digest metabolites effectively, thus resulting in storage in tissues and cells. Most LSDs are autosomal recessive and a few are X-linked recessive. In general, LSDs is one of the most common genetic diseases in humans, the incidence of one of the LSDs is very low. According to the defective proteins or storage species, LSDs are divided into 7 categories: glycosaminoglycan metabolism defects, glycogen decomposition defects, nerve sphingolipid decomposition defects, cholesterol and cholesterol ester decomposition defects, various lysosomal enzyme defects, transport and transport defects.

Disease-related gene description

Mucopolysaccharide storage disease, mucolipid storage disease, sphingolipid deposition disease and glycogen storage disease, especially glycogen storage disease type II, are common types in LSD. The genetic factors leading to mucopolysaccharide disease are a series of lysosomal hydrolase defects related to mucopolysaccharide degradation. The pathogenic mutations in IDUA, IDS, GALNS and GLB1 genes are related to the molecular genetics of type I, II, IVA and IVB mucopolysaccharidosis, respectively. Shear mutations and nonsense mutations in the GNPTAB gene are key factors in the development of mucolipidosis. Neuronal ceroid lipofuscinose (NCL) is a group of lysosomal lipofuscinosis disease. In polytype NCLs, there are biochemical abnormalities in lysosomal hydrolase in cells and significant deposition of subunit C of mitochondrial ATP synthase. Mutations in at least 8 different genes (CLN1~8) have been found to cause NCLs. Mutation of the glucocerebrosidase GBA gene causes a decrease or loss of glucocerebrosidase activity, letting glucocerebroside to accumulate in mononuclear-macrophages, and leading to Gaucher disease. Lysosomal storage diseases contain a wide variety of species, and more genes associated with these diseases can be viewed in the gene list. Because of polymorphic genetic variation, some mutations in the ARSA, HEXA, GAA, GLA, GLB1, FUCA1 and GUSB genes will result in greatly reduced enzyme activity, while the individual remains clinically healthy, a phenomenon known as enzyme pseudodeficiency (Pd).

To support researches related to lysosomal storage disorders associated genes, our custom lysosomal storage disorders panel platform offers a comprehensive lysosomal storage disorders panel library from which you can choose for genetic testing of LSDs. High-throughput targeted enrichment sequencing technology that we perform can screen genetic variants among the lysosomal storage disorders gene panel via a high effective mode and help researchers decode the biology of LSDs.

Custom Lysosomal Storage Disorders Panel offers but are not limited to:

Illumina MiSeq system based high-throughput targeted enrichment sequencing provides the advantages as follows: unparalleled coverage uniformity, highly targeted resequencing and detection of low frequency lysosomal storage disorders variants.
Provide the customizable lysosomal storage disorders panel sequencing which meets your requirements and saves costs.
Each genetic variant detected will be further validated to ensure the validity and reliability of results.
Our platform pipeline workflow designs the strict quality control in order to ensure the accuracy and repeatability of the sequencing.
Custom lysosomal storage disorders panel content is design to keep pace with the current frontiers from LSD literature to target all relevant regions.

Choose the genes that suit you from lysosomal storage disorders gene list

ABCD1	ABHD5	ACOX1	ADAMTSL2	AGA	AGPS	AGXT	ANTXR2
ARSA	ARSB	ASAH1	ATP6AP1	CLN3	CLN4	CLN5	CLN6
CLN8	CTNS	CTSA	CTSC	CTSD	CTSF	CTSK	DHCR7
DNAJC5	DNM1L	DYM	FUCA1	GAA	GALC	GALNS	GBA
GLA	GLB1	GM2A	GNE	GNPAT	GNPTAB	GNPTG	GNS
GPC3	GUSB	HEXA	HEXB	HGSNAT	HRAS	HYAL1	IDS
IDUA	KCTD7	LAMP2	LIPA	MAN2B1	MANBA	MCOLN1	MFSD8
NAGA	NAGLU	NEU1	NPC1	NPC2	PEX1	PEX10	PEX12
PEX13	PEX14	PEX16	PEX19	PEX2	PEX26	PEX3	PEX5
PEX6	PEX7	PHYH	PNPLA2	PPT1	PSAP	RAI1	SCARB2
SGSH	SLC17A5	SMPD1	SUMF1	TCF4	TPP1	TRIM37	VPS33A

Specimen requirements of our custom lysosomal storage disorders panel

Specimen type: peripheral whole blood, extracted DNA.
Specimen volume: 2-5 mL whole blood, 1 μg DNA.
Collection: blood is collected by routine blood collection. DNA samples are stored in TE buffer or equivalent.
Collection container: EDTA tube (lavender-top) or ACD tube(yellow-top).

Gene panel workflow

For more information about the Custom Lysosomal Storage Disorders Panel or need other amplification requirements, please contact us.

References:

Futerman A H, Van Meer G. The cell biology of lysosomal storage disorders. Nature reviews Molecular cell biology, 2004, 5(7): 554.
Filocamo M, Morrone A. Lysosomal storage disorders: molecular basis and laboratory testing. Human genomics, 2011, 5(3): 156.
Platt F M, et al. Lysosomal storage disorders: The cellular impact of lysosomal dysfunction. J Cell Biol, 2012, 199(5): 723-734.
Platt F M. Sphingolipid lysosomal storage disorders. Nature, 2014, 510(7503): 68.

* For Research Use Only. Not for use in diagnostic procedures.