KPNA7

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

Overview

Alias

IPOA8

Associated disorders

The KPNA7 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal recessive infantile spasms (PMID: 24045845).

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KPNA7

Order this gene as a single gene test.

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Invitae tests that include this gene:

Invitae Epilepsy Panel up to 183 genes

Gene function

Nuclear import receptors bind to protein nuclear localization signals and bring protein cargo from the cytoplasm into the nucleus. The KPNA7 gene encodes an importin-alpha receptor but has not been extensively characterized and has largely unknown molecular cargoes.

References

Paciorkowski, AR, et al. Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. Eur. J. Hum. Genet. 2014; 22(5):587-93. PMID: 24045845

Assay

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, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

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.