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Elevated Arginine/Argininemia via the ARG1 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
ARG1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11825ARG181479 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


  • McKenna Kyriss, PhD

Clinical Features and Genetics

Clinical Features

Newborn screening (NBS) tests are performed soon after birth with the goal of identifying individuals that may be affected by certain disorders before disease-related disability or death occurs. Appropriate medical management beginning early in life can prevent all or many symptoms in the affected individuals (Watson et al. 2006. PubMed ID: 16783161; https://www.cdc.gov/newbornscreening/). While NBS is required within all states and territories in the United States, individual state or territory public health departments determine which conditions are included on the NBS panel (https://www.babysfirsttest.org/newborn-screening/states). NBS protocols outside of the United States vary from country to country. At a minimum, all core conditions on the Recommended Uniform Screening Panel (RUSP) should be included on NBS panels within the United States. In addition, NBS testing may also include secondary conditions, which are disorders that can be detected as part of the differential diagnosis of a core condition (https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp). Following an abnormal NBS result, follow up diagnostic testing is indicated. Such testing may include biochemical methodologies (for example, urine organic acid analysis or plasma acylcarnitine analysis), enzyme assays, and/or molecular genetic testing.

This test is appropriate for individuals with elevated arginine detected during the NBS process. Elevated arginine can indicate a deficiency of the arginase enzyme. Arginase deficiency is a secondary condition on the RUSP. 

Individuals with arginase deficiency rarely present during the newborn period but can develop mild-to-moderate hyperammonemia once receiving protein in their diet (https://www.acmg.net/PDFLibrary/Arginine.pdf). Untreated individuals may develop features including slowed growth, developmental delay, seizures, and spasticity (Sun et al. 2020. PubMed ID: 20301338; https://www.acmg.net/PDFLibrary/Arginine.pd). Hyperammonemia due to arginase deficiency is usually less severe than that arising from defects in the proximal urea cycle enzymes (Sun et al. 2020. PubMed ID: 20301338). The overall prevalence of arginase deficiency is estimated at between ~1/350,000 and 1/1,000,000 worldwide (Sun et al. 2020. PubMed ID: 20301338). 


Argininemia is an autosomal recessive disorder caused by pathogenic sequence variants in the ARG1 gene. Over 80 pathogenic variants have been reported in the ARG1 gene in the Human Gene Mutation Database (HGMD, https://www.hgmd.cf.ac.uk/; https://www.ncbi.nlm.nih.gov/clinvar/). Missense, nonsense, splicing, and small deletion variants are the predominant types of disease-causing variants in the ARG1 gene, though small insertions, duplications, and indels as well as gross deletions have all been reported in HGMD. 

Several variants have been reported as founder variants or common variants in specific populations: the French Canadian population (c.57+1G>A), the Turkish population (c.61C>T, p.Arg21*), the Brazilian population (c.401C>T, p.Thr134Ile), and the Chinese population (c.703G>A, p.Gly235Arg). To our knowledge, de novo variants in ARG1 have not been reported. 

Pathogenic variants in the ARG1 gene lead to disruption of the arginase enzyme, which is a liver-specific enzyme that generates urea and ornithine from arginine in the last step of the urea cycle. Deficiency of this enzyme results in normal or elevated arginine, elevated glutamine, elevated urinary orotic acid, and possibly elevated ammonia (Sun et al. 2020. PubMed ID: 20301338; http://www.iembase.com/disorder/16).

Clinical Sensitivity - Sequencing with CNV PGxome

In patients previously diagnosed with elevated serum arginine and decreased enzyme activity, test sensitivity should be very high. Based on literature reports, clinical sensitivity is expected to be ~90-98% (Uchino et al. 1995. PubMed ID: 7649538; Cardoso et al. 1999. PubMed ID: 10502833; Carvalho et al. 2012. PubMed ID: 22959135). 

Testing Strategy

This test provides full coverage of all coding exons of the ARG1 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).

Note that this test includes coverage for the pathogenic deep intronic variant designated c.306-611T>C.

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 elevated arginine detected during NBS are good candidates for this test. Patients with reduced arginase enzyme activity are candidates for this test. We will also sequence the ARG1 gene to determine carrier status.


Official Gene Symbol OMIM ID
ARG1 608313
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Arginase Deficiency AR 207800

Related Tests

PGmaxTM - Comprehensive Inherited Metabolic Disorders and Mitochondrial Disorders (Nuclear Genes only) Panel
Urea Cycle Disorders Panel


  • Cardoso et al. 1999. PubMed ID: 10502833
  • Carvalho et al. 2012. PubMed ID: 22959135
  • http://www.iembase.com/disorder/16
  • https://www.acmg.net/PDFLibrary/Arginine.pd
  • https://www.acmg.net/PDFLibrary/Arginine.pdf
  • https://www.babysfirsttest.org/newborn-screening/states
  • https://www.cdc.gov/newbornscreening/
  • https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp
  • https://www.ncbi.nlm.nih.gov/clinvar/
  • Human Gene Mutation Database (Bio-base).
  • Sun et al. 2020. PubMed ID: 20301338
  • Uchino et al. 1995. PubMed ID: 7649538
  • Watson et al. 2006. PubMed ID: 16783161


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