Ordering Recommendation

Use to confirm diagnosis of glycogen storage diseases or related disorders.

Mnemonic

GSD NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender or Pink (EDTA) or Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush or swab; FFPE tissue.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.  

Compliance Category

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

N/A

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
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

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
Glycogen Storage Disorders Panel, Sequencing