• 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 CD247 gene is associated with autosomal recessive severe combined immunodeficiency (MedGen UID: 346666).

Pathogenic variants in CD247 are a rare cause of severe combined immunodeficiency (SCID). At this time, the percentage of SCID that can be attributed to pathogenic variants in CD247 is unknown.

CD247 encodes the T-cell receptor zeta protein which is part of the T-cell receptor/CD3 (TCR/CD3) complex. The zeta subunit couples antigen recognition to several intracellular signaling pathways. It may also play a role in the assembly and expression of the TCR complex (PMID: 16672702).

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
CD247 NM_198053.2