Background:

Wilson’s disease is a neurometabolic disorder involved in copper metabolism. This disorder is a single gene etiology associated with biallelic changes in ATP7B. Clinical symptoms for this condition include liver disease, movement disorders including tremors, gait changes, and dystonia. Behavior issues have also been shown including, depression, personality changes and anxiety. Biochemical testing can be carried out to assess the copper concentrations in serum or urine. Kayser-Fleisher rings are also an ophthalmologic feature of this condition. This condition is inherited in an autosomal recessive pattern.

Reasons for Referral:

  • Genetic etiology of clinical phenotype associated with Wilson’s disease
  • Abnormal copper in serum or urine
  • Positive family history
  • Carrier testing

Methodology:

Next generation sequencing will analyze the exons or coding regions of the ATP7B gene using Illumina NextSeq 500 technology.  Samples are prepared using hybridization probes to enrich exonic regions.  Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.

Specimen Requirements:

Blood:  EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

2-3 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

  1. GeneReviews: Wilson Disease http://www.ncbi.nlm.nih.gov/books/NBK1512/
  2. Genetics Home Reference: https://ghr.nlm.nih.gov/condition/wilson-disease#

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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