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Danon Disease/Glycogen Storage Disease IIb via the LAMP2 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
LAMP2 81405 81405,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9965LAMP281405 81405,81479 $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


  • Jana Paderova, PhD

Clinical Features and Genetics

Clinical Features

Danon disease, also known as glycogen storage disease IIb (OMIM 300257), is a multisystem disorder characterized by heart arrhythmias, proximal myopathy, retinal abnormalities, and variable degree of mental retardation. The biochemical hallmark of the disease is the accumulation of pathologic vacuoles, containing glycogen or intermediary metabolites, mainly in skeletal and cardiac muscle cells, without evidence of enzyme deficiency (Danon et al. Neurology 31:51-57, 1981). Although the disease was initially classified as a glycogen storage disorder, glycogen is not always elevated in patients (Nishino et al. Nature 406:906-910, 2000).


Danon disease is a rare genetic disorder caused by LAMP-2 protein deficiency, as the result of variants in the LAMP2 gene (Nishino et al. 2000). Danon disease is inherited as an X-linked dominant trait. In male patients, symptoms begin earlier and are usually more severe than in female patients (Sugie et al. Neurology 58:1773-1778, 2002). Over 30 LAMP2 variants have been reported. Nearly all of these variants were nonsense, frameshift, and splicing, although a few missense variants were also reported. Variants were found in patients presenting with vacuolar myopathy associated with hypertrophic cardiomyopathy (Fanin et al. Am J Pathol 168:1309-1320, 2006) or primary hypertrophic cardiomyopathy without apparent myopathy (Arad N Engl J Med 352:362-372, 2005; Dougu et al. Circ J 73:376-380, 2009).

Clinical Sensitivity - Sequencing with CNV PGxome

The sensitivity of this test is currently unknown.

Testing Strategy

This test provides full coverage of all coding exons of the LAMP2 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

Patients with Danon disease and patients with hypertrophic cardiomyopathy associated with electrophysiological abnormalities and asymptomatic elevated serum levels of creatine kinase and alanine aminotransferase (Arad et al. 2005).


Official Gene Symbol OMIM ID
LAMP2 309060
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Danon Disease 300257


  • Arad, M., et.al. (2005). "Glycogen storage diseases presenting as hypertrophic cardiomyopathy." N Engl J Med 352(4): 362-72. PubMed ID: 15673802
  • Arad, M., et.al. (2005). "Glycogen storage diseases presenting as hypertrophic cardiomyopathy." N Engl J Med 352(4): 362-72. PubMed ID: 15673802
  • Danon, M. J., et.al. (1981). "Lysosomal glycogen storage disease with normal acid maltase." Neurology 31(1): 51-7. PubMed ID: 6450334
  • Dougu, N., et.al. (2009). "Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy." Circ J 73(2): 376-80. PubMed ID: 19057086
  • Fanin, M., et.al. (2006). "Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease." Am J Pathol 168(4): 1309-20. PubMed ID: 16565504
  • Nishino, I., et.al. (2000). "Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)." Nature 406(6798): 906-10. PubMed ID: 10972294
  • Nishino, I., et.al. (2000). "Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)." Nature 406(6798): 906-10. PubMed ID: 10972294
  • Sugie K, Yamamoto A, Murayama K, Oh SJ, Takahashi M, Mora M, Riggs JE, Colomer J, Iturriaga C, Meloni A, Lamperti C, Saitoh S, et al. 2002. Clinicopathological features of genetically confirmed Danon disease. Neurology 58: 1773–1778. PubMed ID: 12084876


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

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View Ordering Instructions

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2) Select Additional Test Options

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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