• 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 NEFL gene is associated with autosomal dominant and recessive Charcot-Marie-Tooth disease type 2E (CMT2E) (MedGen UID: 375127) and type 1F (CMT1F) (MedGen UID: 334337).

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Invitae tests that include this gene:

An estimated 4% of CMT2 and an unknown but small percetage of CMT1 are caused by variants in NEFL.

The gene NEFL encodes the light chain neurofilament protein. This neurofilament component is used to make the internal scaffolding that give neurons their characteristic size and shape. More specifically, NEFL helps the neuron maintain the right axon diameter, a feature required for 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
NEFL NM_006158.4