• 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 EGR2 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1D (CMT1D) (MedGen UID: 334709) and Charcot-Marie-Tooth disease type 3 (CMT3), also known as Dejerine-Sottas syndrome (MedGen UID: 3710). Additionally, the EGR2 gene has preliminary evidence supporting a correlation with autosomal recessive Charcot-Marie-Tooth disease type 4E (CMT4E), also known as congenital hypomyelinating neuropathy) (MedGen UID: 97965).

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Invitae tests that include this gene:

EGR2 is a rare cause of CMT, and the percentage of CMT attributed to pathogenic variants in the EGR2 gene is estimated to be <1%.

The gene EGR2 encodes a protein called “early growth response 2.” This transcription factor mediates a variety of cellular growth and differentiation proceses, including myelination of the peripheral nervous system. Myelin is fatty covering that insulates nerve fibers and is essential for the efficient transmission of nerve impulses.

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
EGR2 NM_000399.3