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  • Preferred specimen:
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  • Alternate specimens:
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TNPO3

Alias

IPO12; LGMD1F; MTR10A; TRN-SR; TRN-SR2; TRNSR

Associated disorders

The TNPO3 gene is associated with autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) (MedGen UID: 333983).

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TNPO3

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Invitae tests that include this gene:

The percentage of clinical cases of limb girdle muscular dystrophy caused by pathogenic variants in TNPO3 is unknown.

The TNPO3 gene encodes the Transportin 3 protein, which plays a role in the cellular trafficking of mRNA splicing co-factors.

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
TNPO3 NM_012470.3