3001627
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Glycogen Storage Disorders Panel, Sequencing

GSD NGS
Example Reports
Negative
Positive

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Glycogen Storage Disorder Testing Patient History Form

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Informed Consent for Genetic Testing (Required for NY Patients)

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Additional Technical Information

Ordering Recommendation

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

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA) or yellow (ACD solution A or B)

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)
New York State Clients: 5 mL (Min: 3 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: 2 weeks; Frozen: Unacceptable
New York State Clients: Ambient: 48 hours; Refrigerated: 1 week; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

14-21 days

Reference Interval

Refer to 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.

When testing cord blood specimens, the presence of maternal cell contamination (MCC) is possible, which may impact result interpretation. If clinically warranted, testing for MCC is available, at a charge, through ARUP Laboratories.

Hotline History

N/A

CPT Codes

81403, 81404, 81405, 81406, 81407, 81479

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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