LSDP - Overview: Lysosomal Storage Disease Panel by Next-Generation Sequencing

Test Catalog

Test Name

Test ID: LSDP    
Lysosomal Storage Disease Panel by Next-Generation Sequencing

Useful For Suggests clinical disorders or settings where the test may be helpful

Follow up for abnormal biochemical results and confirmation of suspected lysosomal storage disease (LSD)

 

Identifying mutations within genes known to be associated with lysosomal storage disease, allowing for predictive testing of at-risk family members

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

This test includes next-generation sequencing and supplemental Sanger sequencing to evaluate the genes on this panel.

 

Targeted testing for familial variants (also called site-specific or known mutation testing) is available for all genes on this panel under FMTT / Familial Mutation, Targeted Testing. Call Mayo Medical Laboratories at 800-533-1710 to obtain more information about this testing option.

Highlights

This test uses next-generation sequencing to test for variants in the ACP2, AGA, ARSA, ARSB, ARSH, ASAH1, ATP13A2, CHIT1, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSD, CTSF, CTSK, DNAJC5, FUCA1, GAA, GALC, GALNS, GBA, GFAP, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GRN, GUSB, LAMP2, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, KCTD7, LIPA, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PANK2, PSAP, PPT1, SGSH, SLC17A5, SMPD1, SUMF1, and TPP1 genes.

 

This test may aid in diagnosis of lysosomal storage disorders.

 

Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo
CULAFAmniotic Fluid Culture/Genetic TestYesNo
MATCCMaternal Cell Contamination, BYesNo

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

See clinical information for recommended first-tier biochemical testing.

 

If skin biopsy is received, fibroblast culture will be added and charged separately.

 

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing. (PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Conditional

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Lysosomal Storage Disease Panel

Aliases Lists additional common names for a test, as an aid in searching

NCL
LSD
Lysosomal acid phosphatase deficiency (ACPHD)
aspartylglucosaminuria (AGU)
Metachromatic leukodystrophy
Mucopolysaccharidosis Type VI maroteaux-lamy
Multiple sulfatase deficiency
Farber lipogranulomatosis
Chitotriosidase deficiency (with Gaucher 1)
Cystinosis
Galactosialidosis
Fucosidosis
Pompe disease-glycogen storage disease type II
Krabbe disease
Mucopolysaccharidosis Type IVA Morquio A
Gaucher Disease
Alexander disease
Fabry disease
Mucopolysaccharidosis type IVB-MorquioB
GM2-gangliosidosis, AB variant
Mucolipidosis II, and III
Mucolipidosis III gamma
Mucopolysaccharidosis type IIID Sanfilippo D
Mucopolysaccharidosis type VII Sly
Tay-Sachs disease
Sandhoff disease
Mucopolysaccharidosis type IIIC (Sanfilippo)
Mucopolysaccharidosis type iX: Hyaluroindase deficiency
Mucopolysaccharidosis type II Hunter disease
Mucopolysaccharidosis type I (Hurler/Scheie)
Glycogen Storage Disease Type IIB-Danon Disease
Lysosomal acid lipase deficiency/Wolman disease
Alpha-mannosidase deficiency
Beta-mannosidosis
Mucolipidosis type IV
Schindler disease
Mucopolysaccharidosis Type IIIB
Sialidosis
Niemann-Pick type C1 and C2
Niemann-Pick type C1 and C3
Prosaposin Deficiency (Variants of other disorders as well)
Mucopolysaccharidosis Type IIIA Sanfilippo
Sialic acid storage disease
Niemann-Pick type A/B
Next Gen Sequencing Test