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  • 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
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EPHA2

Alias

ARCC2; CTPA; CTPP1; CTRCT6; ECK

Associated disorders

The EPHA2 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 396229).

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EPHA2

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Invitae tests that include this gene:

The EPHA2 gene encodes the Ephrin-type A receptor 2 protein. Ephrin receptors are a subfamily of the protein-tyrosine kinase family. Cell signalling mediated by activation of the Ephrin-type A receptor 2 through interaction with Ephrin-A ligands is important for various developmental events including regulation of axon guidance, cell migration and cell proliferation in the developing central nervous system (PMID: 16051609).

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
EPHA2 NM_004431.3