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Custom Lysosomal Storage Disorders Panel

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

Gene panel workflow

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

References:

  1. Futerman A H, Van Meer G. The cell biology of lysosomal storage disorders. Nature reviews Molecular cell biology, 2004, 5(7): 554.
  2. Filocamo M, Morrone A. Lysosomal storage disorders: molecular basis and laboratory testing. Human genomics, 2011, 5(3): 156.
  3. Platt F M, et al. Lysosomal storage disorders: The cellular impact of lysosomal dysfunction. J Cell Biol, 2012, 199(5): 723-734.
  4. Platt F M. Sphingolipid lysosomal storage disorders. Nature, 2014, 510(7503): 68.
* For Research Use Only. Not for use in diagnostic procedures.

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