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Aspartylglucosaminuria via the AGA 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
AGA 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9513AGA81479 81479,81479 $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.

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


  • McKenna Kyriss, PhD

Clinical Features and Genetics

Clinical Features

Aspartylglucosaminuria (AGU) is a severe lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. Affected individuals tend to have a characteristic facial appearance that includes widely spaced eyes (ocular hypertelorism), small ears, and full lips. People with this condition may also have bones that become progressively weak and prone to fracture (osteoporosis), an unusually large range of joint movement (hypermobility), and loose skin. Individuals with AGU appear normal during infancy and have a lifespan of about 25 to 45 years (Aronson 1999).


Aspartylglucosaminuria is a rare autosomal recessive disorder present mostly in the Finnish population (Aronson 1999) with an incidence of 1 in 18,500, with about 200 reported cases and a carrier frequency of 2.5-3%. The incidence in the rest of the world population is unknown. AGU is caused by mutations in the aspartylglucosaminidase (AGA) gene. AGA is responsible for the production of a lysozomal enzyme aspartylglucosaminidase, which is involved in the breakdown of complexes of sugar molecules (oligosaccharides) attached to proteins (glycoproteins). AGA mutations result in the absence or shortage of the AGA enzyme in lysosomes, preventing the normal breakdown of glycoproteins. As a result, glycoproteins buildup, disrupting normal functions of the cell and can result in destruction of the cell, particularly nerve cells in the brain. Loss of these cells causes many of the signs and symptoms of aspartylglucosaminuria.

A specific mutation (Cys163Ser) has been identified in over 98% of the affected Finnish population. So far there are about 30 other rare family AGA alleles that have been characterized at the molecular level in the world's population. Causative mutations include missense, nonsense, splicing, and small deletions and insertions.

Clinical Sensitivity - Sequencing with CNV PGxome

AGA is the only gene known to be causative for aspartylglucosaminuria. A specific mutation (Cys163Ser) is concentrated in over 98% of the Finnish population. So far there are about 30 other rare family AGA alleles that have been characterized at the molecular level in the world's population.

Testing Strategy

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

Individuals affected with progressive mental retardation, skeletal abnormalities and characteristic facial features should be considered for testing for Aspartylglucosaminuria. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in AGA.


Official Gene Symbol OMIM ID
AGA 613228
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Aspartylglycosaminuria AR 208400


  • Aronson NN Jr. 1999. Aspartylglycosaminuria: biochemistry and molecular biology. Biochim. Biophys. Acta 1455: 139154. PubMed ID: 10571008


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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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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