Test ID: GSDGP    
Glycogen Storage Disease Gene Panel, Varies<b></b>

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

Follow up of abnormal biochemical results consistent with glycogen storage disease (GSD)

 

Establishing a molecular diagnosis for patients with GSD

 

Identifying variants within genes known to be associated with GSD 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 utilizes next-generation sequencing to detect single nucleotide and copy number variants in 28 genes associated with glycogen storage disease: AGL, ALDOA, ENO3, EPM2A, FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, NHLRC1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, RBCK1, SLC2A2, SLC37A4. See Targeted Genes and Methodology Details for Glycogen Storage Disease Gene Panel in Special Instructions and Method Description for additional details.

 

Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for glycogen storage disease.

 

Additional first-tier testing may be considered/recommended. For more information see Ordering Guidance.

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

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

For skin biopsy or cultured fibroblast specimens, fibroblast culture testing will be performed at an additional charge. If viable cells are not obtained, the client will be notified. 

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

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.

Yes

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

Glycogen Storage Disease Gene Panel

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

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 IIb- Danon disease
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)
GSD
Lafora progressive myoclonus epilepsy
Next Gen Sequencing Test
Phosphoglucomutase 1 (glycogen storage disease XIV)
Phosphoglycerate kinase deficiency
Phosphorylase kinase, alpha 1 (muscle) (Glycogen storage disease, type IXD)
Pompe disease-glycogen storage disease type II