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Aminoacylase-1 Deficiency via the ACY1 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
ACY1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11067ACY181479 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. 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


  • Eric Bend, PhD

Clinical Features and Genetics

Clinical Features

Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism that presents with neurological symptoms. Reported ACY1D patients were first brought to clinical attention in early childhood between 3 months and 5 years of age (Sass et al. 2006). The clinical picture of ACY1D is heterogeneous, patients have been described with febrile seizures, psychomotor delay, muscular hypotonia, and mild intellectual disability (Sass et al. 2006; Ferri et al. 2013).

ACY1D leads to increased levels of N-acetylated amino acids in urine, but notably not N-acetylaspartate (which is elevated in Canavan disease) (Sass et al. 2006). An ACY1D diagnosis is made by analysis of organic acids in urine via gas chromatography-mass spectrometry or NMR and is confirmed with enzyme activity tests and gene sequencing (Sass et al. 2006).


ACY1D is caused by mutations in the ACY1 gene and is inherited in an autosomal recessive manner. In addition to missense variants, frameshift and splice site variants in ACY1 have been reported to cause ACY1D (Sass et al. 2006; Ferri et al. 2013; Alessandrì et al. 2014).

Many proteins are N-acetylated and this modification promotes protein stability. ACY1 encodes the protein aminoacylase 1 (ACY1) which hydrolyzes N-acetyl amino acids into the free amino acid and acetic acid (Sass et al. 2006). ACY1 is one of four aminoacylases and preferentially acts on short chain amino-acids. ACY1 is highly expressed in the brain, liver, and kidney. It is hypothesized that accumulation of N-acetylated amino acids in the brain is toxic or that acetylation prevents the metabolic conversion of amino acids for other biological processes (Alessandrì et al. 2014).

Clinical Sensitivity - Sequencing with CNV PGxome

ACY1D is either a rare or underdiagnosed condition, with less than 20 cases reported in the literature. There have been no large scale ACY1 screenings that can be used to assess the frequency of pathogenic ACY1 variants in ACY1D cases.

Testing Strategy

This test provides full coverage of all coding exons of the ACY1 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

ACY1 sequencing should be considered in patients with suspected ACY1D due to elevated urinary N-acetylated metabolites. ACY1 sequencing might also be considered in patients with febrile seizures or psychomotor delay of unknown cause. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ACY1.


Official Gene Symbol OMIM ID
ACY1 104620
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Aminoacylase 1 Deficiency AR 609924


  • Alessandŕ MG, Casarano M, Pezzini I, Doccini S, Nesti C, Cioni G, Battini R. 2014. Isolated Mild Intellectual Disability Expands the Aminoacylase 1 Phenotype Spectrum. JIMD Rep. PubMed ID: 24997716
  • Ferri L, Funghini S, Fioravanti A, Biondi E, Marca G la, Guerrini R, Donati M, Morrone A. 2013. Aminoacylase I deficiency due to ACY1 mRNA exon skipping: Aminoacylase I deficiency. Clinical Genetics n/a–n/a. PubMed ID: 24117009
  • Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Schweitzer-Krantz S, Moebus R, Weiler P, others. 2006. Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism. The American Journal of Human Genetics 78: 401–409. PubMed ID: 16465618


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

No Additional Test Options are available for this test.

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