• 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



C10orf69; Erlin-1; KE04; KEO4; SPFH1; SPG62

Associated disorders

The ERLIN1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 62 (SPG62) (MedGen UID: 924879; PMID: 24482476).

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Invitae tests that include this gene:

The ERLIN1 gene encodes a protein involved in the endoplasmic reticulum-associated degradation pathway (ERAD) which eliminates defective proteins from the cell. The ERLIN1 protein is also involved in the regulation of cellular cholesterol homeostasis. Cholesterol is an essential lipid component of mammalian cell membranes and is the prime precursor of steroid hormones.

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
ERLIN1 NM_006459.3