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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
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MEF2C

Alias

C5DELq14.3; DEL5q14.3

Associated disorders

The MEF2C gene is associated with autosomal dominant MEF2C-related intellectual disability (MedGen UID: 462050).

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MEF2C

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Invitae tests that include this gene:

5q14.3 deletion, which includes the MEF2C gene locus, is associated with 100% of clinical cases of MEF2C-related intellectual disability.

The MEF2C gene encodes a transcription factor that is essential for embryogenesis, including neural progenitor cell development and neuronal maturation into adult brain structures (PMID: 23389741).

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
MEF2C NM_002397.4