Comprehensive STRC / Deafness and Male Infertility Syndrome Test

Pathogenic copy number variants in STRC are estimated to cause between 1-5% of hearing loss (Vona 2015 PMID: 26011646, Yokota 2019 PMID: 30867468, Francey 2012 PMID: 22147502). The STRC gene is associated with autosomal recessive hearing loss that is typically mild to moderate. The pathogenic variant spectrum includes sequence variants, large deletions of the STRC gene, and contiguous gene deletions that also encompass the CATSPER2 gene. The contiguous gene deletion of STRC and CATSPER2 is responsible for autosomal recessive Deafness and Male Infertility syndrome. The STRC gene is highly homologous to a pseudogene (99.6% of coding regions and 98.9% including introns), thus requiring long range sequencing and appropriately targeted deletion assays to accurately detect variants across the entire gene (Mandelker 2014 PMID: 25157971). The common large deletions have an estimated carrier frequency of up to 2.5% in the different populations (Vona 2015, Yokota 2019), suggesting that STRC related hearing loss may be underreported, in part due to technical limitations in detecting STRC variants in regions with high pseudogene homology. This panel addresses this limitation through a specialized assay that has been validated to detect variants across all exons of STRC and eliminate pseudogene contamination. Read more about this test.

Requisition Form

All samples must be accompanied with a completed requisition form. Please make sure any identifiers used on the specimen are provided on the paperwork. Consent page should be signed by a health care provider. Any incomplete or missing paperwork may delay the start of testing.

Test Detail

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Billing Information

The Laboratory for Molecular Medicine offers several billing options for our clients and their patients; however, we do not bill insurance companies and are unable to begin testing without accurate billing information.

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