DNA icon

Glycogen Storage Disease Type III via the AGL Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
AGL 81407 81407,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9349AGL81407 81407,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Maxime Cadieux-Dion, PhD

Clinical Features and Genetics

Clinical Features

Glycogen storage disease type III (GSDIII) (OMIM 232400) is caused by a deficiency of glycogen debranching enzyme. Symptoms, which appear in the first year of life, include hepatomegaly, fasting hypoglycemia, short stature, and often myopathy (muscle wasting) andr hypertrophic cardiomyopathy. Symptoms are quite variable among affected individuals. Symptoms are also similar to GSD type I. Several subtypes of GSDIII have been described based on phenotypic differences, but so far all subtypes have been connected to deficiencies in the same debranching enzyme.


GSDIII is inherited in an autosomal recessive manner. All causative genetic defects reported to date for GSDIII have been within the large AGL gene that encodes the glycogen debranching enzyme with both transferase and glucosidase activities. Approximately 75 different variants have been identified in AGL (Shen et al. J Clin Invest 98:352-357, 1996; Okubo et al. Hum Genet 106:108-115, 2000; Lucchiari et al. Amer J Med Genet 109:183-190, 2002; Endo et al. J Hum Genet 51:958-963, 2006; Human Gene Mutation Database (http://www.hgmd.org/)). The variants are distributed throughout the length of the gene. Causative variants are largely nonsense, splicing, and frameshift, with a few missense. No variants are predominant, except in isolated populations.

Clinical Sensitivity - Sequencing with CNV PGxome

Based on literature reports, we estimate that our full gene sequencing test will detect at least one likely causative variant in nearly all patients with GSDIII. In 6/20 cases (30%) reported in the literature, only one of the two variants was detected.

Testing Strategy

This test provides full coverage of all coding exons of the AGL gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test are patients with symptoms consistent with GSDIII. We will sequence the AGL gene in parents of affected children in cases where DNA from the child(ren) is unavailable. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in AGL.


Official Gene Symbol OMIM ID
AGL 610860
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Glycogen Storage Disease Type III AR 232400


  • Endo, Y., et.al. (2006). "Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey." J Hum Genet 51(11): 958-63. PubMed ID: 17047887
  • Human Gene Mutation Database (Bio-base).
  • Lucchiari, S., et.al. (2002). "Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area." Am J Med Genet 109(3): 183-90. PubMed ID: 11977176
  • Okubo, M., et.al. (2000). "Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan." Hum Genet 106(1): 108-15. PubMed ID: 10982190
  • Shen, J., et.al. (1996). "Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle." J Clin Invest 98(2): 352-7. PubMed ID: 8755644


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

loading Loading... ×


An error has occurred while calculating the price. Please try again or contact us for assistance.

View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: loading
Patient Prompt Pay Price: loading
A patient prompt pay discount is available if payment is made by the patient and received prior to the time of reporting.
Show Patient Prompt Pay Price
Copy Text to Clipboard