Invitae Werner Syndrome Test


Test description

This test analyzes the WRN gene, which is associated with Werner syndrome. This rare condition is characterized by short stature, premature onset of features associated with normal aging (with onset usually in the second decade of life), and a predisposition to cancer.

While many of the typical signs and symptoms of Werner syndrome evolve with age, genetic testing by analysis of the WRN gene can confirm a diagnosis. At-risk relatives can be identified, allowing pursuit of a diagnostic evaluation, early detection, and improved clinical outcome.

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Primary panel (1 gene)


WRN: Deletion/duplication analysis is not offered for exons 10 or 11.

Werner syndrome

Werner syndrome is a rare, inherited condition that is characterized by short stature and premature aging, including thinning and graying hair, aged skin, cataracts, diabetes mellitus, osteoporosis, atherosclerosis, and cancer.

Onset of features is typically in the second or third decade of life, with an average age of clinical diagnosis in the late thirties. The most common cause of mortality is cancer, followed by vascular disease such as atherosclerosis.

Cancers associated with Werner syndrome include soft-tissue sarcomas, osteosarcomas, melanomas, and thyroid carcinomas.

Due to the rarity of Werner syndrome, the lifetime risk of developing specific tumors is unknown; however, as affected individuals age, there is an increased risk of developing many different types of cancer, including soft-tissue sarcomas, osteosarcomas, melanomas, and thyroid carcinomas.

Werner syndrome is inherited in an autosomal recessive manner.

The prevalence in the US population is estimated at 1 in 200,000, but founder mutations have been reported in the Japanese and Sardinian populations, leading to an increased prevalence ranging from 1 in 20,000 to 1 in 50,000.

Analysis of the WRN gene may considered in individuals with the following symptoms:

  • short stature
  • cataracts
  • characteristic aged skin findings (tight skin, atrophic skin, pigmentary alterations, ulceration, hyperkeratosis, regional subcutaneous atrophy)
  • characteristic facies (“bird” facies)
  • parental consanguinity or affected sibling
  • premature greying and/or thinning of scalp hair

The International Registry of Werner Syndrome provides detailed diagnostic criteria.

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
WRN* NM_000553.4

WRN: Deletion/duplication analysis is not offered for exons 10 or 11.