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Werner Syndrome via the WRN Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
11813 WRN 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11813WRN81479 81479(x2) $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Hannah Cox, PhD

Clinical Features and Genetics

Clinical Features

Werner Syndrome (WS) presents with premature aging (e.g. greying and loss of hair) and has been called the "adult form of progeria". Most clinical signs can be observed after 10 years of age. In addition to premature aging, there are clinical features of osteoporosis, hoarseness of voice, short stature, atherosclerosis, cataracts, hypogonadism, and diabetes. A high risk of UV-independent melanomas of the mucosae and acrolentiginous melanomas has been noted. Other common cancers include soft tissue sarcomas, thyroid cancers, meningiomas, and osteosarcomas (Thoms et al. Experimental Dermatology 16:532–544, 2007). The prevalence of Werner syndrome is 1:20,000-40,000 in Japanese populations (Satoh et al. Lancet 353:1766, 1999), 1:50,000 in the Sardian population (Masala et al. Eur J Dermatol 17:213–216, 2007), and has been estimated to be 1:200,000 in the United States (Martin et al. J Am Geriatr Soc 47:1136–44, 1999).

Genetics

Werner syndrome is an autosomal recessive disease caused by mutations in the WRN gene. The WRN gene encodes an ATP-dependent helicase, belonging to the RECQ family of helicases. It is involved in unwinding DNA for processes such as DNA replication, repair, recombination, and transcription. It also has an exonuclease function and is involved in the maintenance of telomeres (Rossi et al. DNA Repair (Amst) 9:331–44, 2010). The most common mutation is c.1105C>T, which is prevalent in European and Japanese populations (Matsumoto et al. Hum Genet 100:123–30, 1997; Friedrich et al. Hum Genet 128:103–11, 2010). Founder mutations exist in other populations (Oshima et al. GeneReviews. 2012 Pubmed: 20301687). Most mutations in WS result in loss of protein expression via frameshift mutations.

Clinical Sensitivity - Sequencing with CNV PGxome

Mutations in WRN are identified by sequencing in approximately 90% of individuals with Werner syndrome (Oshima et al. GeneReviews. 2012).

Testing Strategy

This test provides full coverage of all coding exons of the WRN gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Individuals who are suspected to have Werner Syndrome. Individuals with a family history of WS and who want to know their carrier status of WRN mutations. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in WRN.

Gene

Official Gene Symbol OMIM ID
WRN 604611
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Werner Syndrome AR 277700

Citations

  • Friedrich et al. (2010). "WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations." Hum Genet 128:103–11. PubMed ID: 20443122
  • Martin et al. (1999). "What geriatricians should know about the Werner syndrome." J Am Geriatr Soc 47:1136–44. PubMed ID: 10484259
  • Masala et al. (2007). "Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster." Eur J Dermatol 17:213–216. PubMed ID: 17478382
  • Matsumoto et al. (1997). "Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population." Hum Genet 100:123–30. PubMed ID: 9225981
  • Oshima et al. (2012). "Werner Syndrome." GeneReviews. PubMed ID: 20301687
  • Rossi et al. (2010). "Roles of Werner syndrome protein in protection of genome integrity." DNA Repair (Amst) 9:331–44. PubMed ID: 20075015
  • Satoh et al. (1999). "Prevalence of Werner's syndrome heterozygotes in Japan." Lancet 353:1766. PubMed ID: 10347997
  • Thoms et al. (2007). "Lessons learned from DNA repair defective syndromes." Experimental Dermatology 16:532–544. PubMed ID: 17518994

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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