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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
  • Sample requirements
  • Request a sample kit
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RTN2

Alias

NSP2; NSPL1; NSPLI; SPG12

Associated disorders

The RTN2 gene is associated with autosomal dominant hereditary spastic paraplegia 12 (MedGen UID: 347618).

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RTN2

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Invitae tests that include this gene:

Pathogenic variants in RTN2 are estimated to be a rare (<1%) cause of hereditary spastic paraplegia.

RTN2 encodes the reticulon 2 protein. Reticulon 2 is expressed in skeletal muscle, localizes to the ER, and interacts with spastin, another known molecular cause of HSP that exhibits abnormal ER morphogenesis.

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
RTN2 NM_005619.4