• 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



KIAA0329; SPG49

Associated disorders

The TECPR2 gene is associated with autosomal recessive hereditary spastic paraplegia 49 (SPG49) (MedGen UID: 762260).

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Invitae tests that include this gene:

TECPR2 is a rare cause of HSP, and the percentage of HSP attributed to pathogenic variants identified in TECPR2 is unknown.

The TECPR2 gene encodes the tectonin beta-propeller repeat-containing protein 2. This protein functions in the autophagy system, which mediates the degradation of misfolded and aggregated proteins and is critical for cellular homeostasis of the nervous system.

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
TECPR2 NM_014844.3