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Glycogen Storage Disorders Panel, Sequencing
Ordering Recommendation
Use to confirm diagnosis of glycogen storage diseases or related disorders.
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
14-21 days
New York DOH Approval Status
Specimen Required
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Refrigerated.
Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush or swab; FFPE tissue.
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Refer to report.
Laboratory Developed Test (LDT)
Note
Genes tested: ACAT1, AGL, ALDOA, ALDOB, CPT2, ENO3,* FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, NHLRC1, OXCT1,* PFKM,* PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, RBCK1, SLC16A1, SLC2A2, SLC37A4.
*One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.
Hotline History
CPT Codes
81403, 81404, 81405, 81406, 81407, 81479
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 3001693 | Glycogen Storage Disease Specimen | |
| 3004254 | GSD NGS Interp |
Aliases
- aldolase A deficiency
- alpha-methylacetoacetic aciduria
- Andersen disease
- carnitine palmitoyltransferase II deficiency
- Danon disease
- exercise intolerance
- Fanconi Bickel syndrome
- Forbes Cori disease
- glycogen storage disease
- GSD
- GSD 0
- GSD I
- GSD II
- GSD III
- GSD IV
- GSD IX
- GSD V
- GSD VI
- GSD VII
- GSD X
- GSD XI
- GSD XII
- GSD XIII
- GSD XV
- hepatomegaly
- hereditary fructose intolerance
- hypoglycemia
- ketosis
- Lewis's disorder
- McArdle disease
- phosphorylase kinase deficiency
- Pompe disease
- von Gierke disease
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