• Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit


Associated disorders

The ARG1 gene is associated with autosomal recessive arginase deficiency (MedGen UID: 78688).

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Invitae tests that include this gene:

ARG1 is the only gene known to be associated with arginase deficiency. However, due to the rarity of this condition, the percent of arginase deficiency attributed to pathogenic variants in ARG1 is currently unknown.

The ARG1 gene encodes the enzyme arginase, which catalyzes the final step of the urea cycle, the hydrolysis of arginine to urea and ornithine (PMID: 15766238).

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ARG1 NM_000045.3