Athletic Panel ACE and ACTN3 Genes

ACE gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. The ACE gene was shown to be characterized by an insertion/deletion polymorphism based on the presence (insertion [I]) or absence (deletion [D]) within intron 16 of a 287-basepair alu repeat sequence, resulting in three genotypes (DD and II homozygotes and ID heterozygotes). The I/D polymorphism was found to be in strong linkage disequilibrium with the major gene locus controlling plasma ACE with mean plasma ACE level in DD subjects approximately twice that of II subjects, with ID subjects having intermediate values.(1) Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. ACE D allele is associated with higher concentration of circulating and tissue ACE, thus increased angiotensin II levels; this allele would theoretically favor performance in more power or strength-oriented sports.

The ACTN3 gene encodes the α-actinin-3 protein, which is, together the α-actinin-2 protein, an important structural component of the Z disc, where they anchor actin thin filaments, helping to maintain the myofibrillar array.(2) This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism (rs1815739) in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. Studies have linked the fiber twitch type with ACTN3, i.e. fast twitch fiber abundant individuals carry the non-mutant gene version. Also, studies in elite athletes have shown that the ACTN3 gene may influence athletic performance. While the non-mutant version of the gene is associated with sprint performance, the mutant version is associated with endurance.(3)

Recent studies suggest that the analysis of ACTN3 and ACE genotypes could predict talent in the soccer field and that knowledge of the genetic variants could determine types and training times for soccer players.(4)

Abnormal Test Sample Report

Test Description:

The analysis of common variants in the ACE and ACTN3 genes are detected by automated DNA sequencing. The gene is analyzed by PCR-based double-stranded automated sequencing in the sense and antisense directions.

Determine mutations in the ACE and ACTN3 Genes.

ACE Variations
ACE Segment SNP number Position
Intron 16 rs4340 c.2306-117_2306-116insAlusegment
ACTN3 Variations
ACTN3 Segment SNP number Position
Exon 15 rs1815739 c.1729C>T (p.R577X)

Specimen Requirements:

  • Specimen and Volume: Buccal epithelial cells collected on standard cotton tip swabs. Alternative acceptable specimens include 3-5 cc of blood in EDTA or ACD BD Vacutainer tubes guide. Other types of tissue may be accepted (please call 818-789-1033 to verify before sending).
  • Contact your doctor's office or FirmaLab for buccal swab kits. Buccal Swab Kit Instructions
  • Temperature: can be at room temperature the specimen needs to be at the laboratory no more then 72hrs. Do not freeze whole blood.
  • Turn around time: 5-7 days

Specimen Rejection Criteria: Below are general rejection criteria. If the specimen must be rejected based on the following criteria, or specific criteria for the requested test:

  1. The test requisition form has missing information. Requisition must contain the required information including:
    • Requesting party and referring authority, usually a healthcare professional.
    • Patient identifying information - Name or alias if anonymous;
    • Test requested, Clinical indication for testing;
    • Date and time of specimen collection;
    • Type of sample (e.g. whole blood or epithelial cells obtained by buccal swab);
    • All other identifying information (e.g. social security number, telephone number, hospital ID, sex … etc.) is optional, but useful for accurate differentiating between patients with similar names.
  2. Label is unclear;
  3. Blood specimen is from a recipient of bone marrow transplant;
  4. Specimen is inappropriate for test requested;
  5. Blood sample is clotted or hemolyzed;
  6. Incorrect container or Vaccutainer used


  1. Samani NJ, Thompson JR, O'Toole L, Channer K, Woods KL. A meta-analysis of the association of the deletion allele of the angiotensin-converting enzyme gene with myocardial infarction.Circulation. 1996;94(4):708-12.
  2. Blanchard A, Ohanian V, Critchley D. The structure and function of alpha-actinin. J Muscle Res Cell Motil. 1989 Aug;10(4):280-9.
  3. Niemi AK, Majamaa K. Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. Eur J Hum Genet. 2005 Aug;13(8):965-9.
  4. Galeandro V, Notarnicola A, Bianco A, Tafuri S, Russo L, Pesce V, Moretti B, Petruzzella V. ACTN3/ACE genotypes and mitochondrial genome in professional soccer players performance. J Biol Regul Homeost Agents. 2017 Jan-Mar;31(1):207-213
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