• 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



NFLS; PPP1R147; hSpred1; spred-1

Associated disorders

The SPRED1 gene is associated with autosomal dominant Legius syndrome (MedGen UID: 370709).

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Invitae tests that include this gene:

An estimated 98% of Legius syndrome is caused by pathogenic variants, including sequence and deletion/duplication variants, identified in SPRED1. Of individuals evaluated for NF1 without an identifiable NF1 pathogenic variant, 3%-25% had a pathogenic variant identified in SPRED1.

The SPRED1 gene encodes a protein that is amember of the Sprouty family of proteins. SPRED1 is phosphorylated by tyrosine kinase in response to growth factors and regulates activation of the MAP kinse cascade in the RAS/MAPK signalling pathway. SPRED1 binding to Raf protein in the RAS/MAPK pathway inactivates downstream signalling in this pathway that is involved in cell growth, proliferation, maturation, migration and cell death.

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
SPRED1 NM_152594.2