-
- Sign In
- Tests
-
Invitae testsFollow-up testingFrequently ordered panels
- How to order
-
Getting startedEssentialsSponsored programs
- Resources
-
Clinical resourcesEducational materialsWorking together
- Technology
-
Our technologyA new gold standardData sharing
- Support
- FOR PATIENTS
- CONTACT
- FAQs / SUPPORT
TIA1
Alias
TIA-1; WDM
Associated disorders
The TIA1 gene is associated with autosomal dominant and recessive Welander distal myopathy (WDM) (MedGen UID: 67441).
Order single gene
TIA1
Order this gene as a single gene test.
Order a test
Invitae tests that include this gene:
Invitae Distal Myopathy Panel 18 genes
Invitae Comprehensive Myopathy Panel 50 genes
Clinical sensitivity
Pathogenic variants in TIA1 are the only known cause of Welander distal myopathy, a subtype of distal myopathy that is prevalent in Sweden and Finland.
Gene function
The TIA1 gene encodes the Cytotoxic granule-associated RNA-binding protein, which regulates splicing of a variety of transcripts in response to cellular stress.
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.
| Gene | Transcript reference | Sequencing analysis | Deletion/Duplication analysis |
|---|---|---|---|
| TIA1 | NM_022173.2 |
