• 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 AK2 gene is associated with autosomal recessive reticular dysgenesis, a rare form of severe combined immunodeficiency (MedGen UID: 124417).

Pathogenic variants in the AK2 gene are the only known cause of reticular dysgenesis, which is attributed to an estimated <1% of severe combined immunodeficiency (SCID) (PMID: 8410508, 9063412).

The AK2 gene encodes adenylate kinase 2, which regulates the adenine composition of the cell by catalyzing the reversible transfer of phosphate groups between ATP and AMP. Adenylate kinase 2 is located in the mitochondrial intermembrane space and may be involved in apoptosis (PMID: 26270350).

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, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

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
AK2 NM_001625.3; NM_013411.4