Test Catalog

Test ID: LPGD    
Lysosomal, Peroxisomal, Glycogen, and Neuronal Ceroid Lipofuscinosis Panels, Next-Generation Sequencing, Varies

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 diseases, neuronal ceroid lipofuscinoses (Batten disease), peroxisomal disorders, or glycogen storage diseases

 

Identifying mutations within genes known to be associated with lysosomal storage diseases, neuronal ceroid lipofuscinoses (Batten disease), peroxisomal disorders, or glycogen storage diseases, allowing for predictive testing of at-risk family members

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

This test includes next-generation sequencing and Sanger sequencing to evaluate the genes on this panel including detection of large deletions and duplications.

 

This ordered service includes the option for 1 of the following metabolic panels:

-Lysosomal Storage Disease Panel (58 genes)

-Neuronal Ceroid Lipofuscinosis (Batten Disease) Panel (15 genes)

-Peroxisomal Disorder Panel (30 genes)

-Glycogen Storage Disease Panel (26 genes)

-Custom Gene Panel (https://orders.mayocliniclabs.com/en/tools/gene_panels)

-Custom Gene Ordering tutorial: https://vimeo.com/299737728/23d56922f1

 

Risk alleles for Parkinson disease with no known enzyme reduction or lysosomal storage disease association will only be reported in patients over 18 years old. Polymorphisms are available upon request for all patients.

 

See Targeted Genes for Lysosome, Peroxisome, GSD Panels in Special Instructions for details regarding the targeted genes for each test.

Highlights

This test uses next-generation sequencing to test for variants, including large deletions and duplications, in the genes indicated.

 

Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling for lysosomal storage disease, neuronal ceroid lipofuscinoses (Batten disease), peroxisomal disorders, or glycogen storage disease.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo
G158 Lysosomal Storage Disease Panel No, (Bill Only)No
G159NCL (Batten Disease) PanelNo, (Bill Only)No
G160Peroxisomal Disorder Panel No, (Bill Only)No
G161Glycogen Storage Disease PanelNo, (Bill Only)No
G145Hereditary Custom Gene Panel Tier 1No, (Bill Only)No
G146Hereditary Custom Gene Panel Tier 2No, (Bill Only)No
G147Hereditary Custom Gene Panel Tier 3No, (Bill Only)No
G148Hereditary Custom Gene Panel Tier 4No, (Bill Only)No
G149Hereditary Custom Gene Panel Tier 5No, (Bill Only)No

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See Advisory Information for recommended first-tier biochemical testing.

 

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

 

This test includes the option for either 1 of several predefined panel tests or the option to create a custom gene panel. Pricing for the Custom Gene Panel will be based on the number of genes selected (1, 2-14, 15-49, 50-100, and 101-500).

Special Instructions Library of PDFs including pertinent information and forms related to the test

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

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS)/Polymerase Chain Reaction (PCR)/qPCR/Sanger Sequencing

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

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Lysosome, Peroxisome, GSD Panels

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

Alexander disease
Alpha-mannosidase deficiency
Aspartylglucosaminuria (AGU)
Beta-mannosidosis
Chitotriosidase deficiency (with Gaucher 1)
Cystinosis
Fabry disease
Farber lipogranulomatosis
Fucosidosis
Galactosialidosis
Gaucher disease
Glycogen storage disease type IIB-Danon disease
GM2-gangliosidosis, AB variant
Krabbe disease
LSD
Lysosomal acid lipase deficiency/Wolman disease
Lysosomal acid phosphatase deficiency (ACPHD)
Metachromatic leukodystrophy
Mucolipidosis II, and III
Mucolipidosis III gamma
Mucolipidosis type IV
Mucopolysaccharidosis type I (Hurler/Scheie)
Mucopolysaccharidosis type II Hunter disease
Mucopolysaccharidosis Type IIIA Sanfilippo
Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis type IIIC (Sanfilippo)
Mucopolysaccharidosis type IIID Sanfilippo D
Mucopolysaccharidosis Type IVA Morquio A
Mucopolysaccharidosis type IVB-Morquio B
Mucopolysaccharidosis type IX: hyaluroindase deficiency
Mucopolysaccharidosis Type VI Maroteaux-Lamy
Mucopolysaccharidosis type VII Sly
Multiple sulfatase deficiency
NCL
Next Gen Sequencing Test
Niemann-Pick type A/B
Niemann-Pick type C1 and C2
Niemann-Pick type C1 and C3
Pompe disease-glycogen storage disease type II
Prosaposin Deficiency (Variants of other disorders as well)
Sandhoff disease
Schindler disease
Sialic acid storage disease
Sialidosis
Tay-Sachs disease
Acatalasemia
Acyl-CoA oxidase deficiency
Adrenoleukodystrophy-like/related
Alpha-methylacyl-CoA racemase deficiency; bile acid synthesis defect, congenital
Congenital bile acid synthesis defect-5
D-bifunctional enzyme deficiency; Perrault syndrome
Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission
Glutaric aciduria III
Leukoencephalopathy with dystonia and motor neuropathy
Mulibrey nanism
PDP peroxisome biogenesis disorder
Refsum disease
Rhizomelic chondrodysplasia punctata, type 2 (RCDP)
Rhizomelic chondrodysplasia punctate, type 1 (RCDP)
Rhizomelic chondrodysplasia punctate, type 3 (RCDP)
X linked adrenoleukodystrophy
Zellweger
Glycogen Storage Disease
Glycogen storage disease of the heart -Wolff-Parkinson-White syndrome
Glycogen storage disease type 0 -muscle
Glycogen storage disease type 11, GLUT-2 deficiency, Fanconi Bickel syndrome
Glycogen storage disease type Ia, mitochondrial
Glycogen storage disease type Ib & Ic
Glycogen storage disease type III
Glycogen storage disease type IV -adult polyglucosan body disease
Glycogen storage disease type IXA
Glycogen storage disease type IXC
Glycogen storage disease type V, McArdle disease
Glycogen storage disease type VI
Glycogen storage disease type VII
Glycogen storage disease type X- phosphoglycerate mutase deficiency
Glycogen storage disease type XI- lactate dehydrogenase deficiency
Glycogen storage disease type XV
Glycogen storage disease XII
Glycogen storage disease XIII
Glycogen storage disease, IXb
Glycogen synthase 2 (glycogen storage disease 0, liver)
Lafora progressive myoclonus epilepsy
Phosphoglucomutase 1 (glycogen storage disease XIV)
Phosphoglycerate kinase deficiency
Phosphorylase kinase, alpha 1 (muscle) (Glycogen storage disease, type IXD)