Glycogen Storage Disorders Panel, Sequencing

3001627
copy
 

Copy Utility


emailprint
Example Reports
Negative
Positive

Icon

Glycogen Storage Disorder Testing Patient History Form

Icon

Additional Technical Information

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

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
09/16/2021
X
N/A

CPT Codes

81403, 81404, 81405, 81406, 81407, 81479

Are you an ARUP Client? Click here for your pricing.

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