• 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



NEDD4-2; NEDD4.2; RSP5; hNEDD4-2

Associated disorders

The NEDD4L gene is associated with autosomal dominant periventricular nodular heterotopia (MedGen UID: 934636). Additionally, the NEDD4L gene has preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (PMID: 23934111).

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Invitae tests that include this gene:

The cell is continually producing essential building blocks for life, such as proteins, metabolites, sugars, and lipids. These components are also continually degraded as they become damaged, overabundant, or unnecessary. The NEDD4L gene encodes a ubiquitin ligase that targets membrane proteins, such as ion channels, for internalization and degradation (PMID: 25433090).

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
NEDD4L NM_015277.5