Test Catalog

Test ID: GSDP    
Glycogen Storage Disease Panel by Next-Generation Sequencing, Varies

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

Follow up of abnormal biochemical results consistent with glycogen storage disease


Identifying mutations within genes known to be associated with glycogen storage disease, 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 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, Varies. Call 800-533-1710 to obtain more information about this testing option.


See Targeted Genes Interrogated by Glycogen Storage Disease Panel in Special Instructions for details regarding the targeted genes identified by this test.


This test uses next generation sequencing to test for variants in the AGL, ALDOA, ENO3, EPM2A, G6PC, GAA ,GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, NHLRC1, PFKM ,PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, SLC2A2, and SLC37A4 genes.


This may aid in diagnosis of glycogen storage disorders. 


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

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
CULAFAmniotic Fluid Culture/Genetic TestYesNo
MATCCMaternal Cell Contamination, BYesNo

Testing Algorithm Delineates situations 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 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 followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

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


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

Glycogen Storage Disease Panel

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

Glycogen storage disease type III
Glycogen storage disease XII
Glycogen storage disease XIII
Lafora progressive myoclonus epilepsy
Glycogen storage disease type Ia, mitochondrial
Pompe disease-glycogen storage disease type II
Glycogen storage disease type IV -adult polyglucosan body disease
Glycogen storage disease type XV
Glycogen storage disease type 0 -muscle
Glycogen synthase 2 (glycogen storage disease 0, liver)
Glycogen storage disease type IIb- Danon disease
Glycogen storage disease type XI- lactate dehydrogenase deficiency
Glycogen storage disease type VII
Glycogen storage disease type X- phosphoglycerate mutase deficiency
Phosphoglycerate kinase deficiency
Phosphoglucomutase 1 (glycogen storage disease XIV)
Phosphorylase kinase, alpha 1 (muscle) (Glycogen storage disease, type IXD)
Glycogen storage disease type IXA
Glycogen storage disease, IXb
Glycogen storage disease type IXC
Glycogen storage disease of the heart -Wolff-Parkinson-White syndrome
Glycogen storage disease type VI
Glycogen storage disease type V, McArdle disease
Glycogen storage disease type 11, GLUT-2 deficiency, Fanconi Bickel syndrome
Glycogen storage disease type Ib & Ic
Next Gen Sequencing Test
Glycogen Storage Disease