Wilson disease (MIM 277900), also known as hepatolenticular degeneration is an autosomal recessive disorder caused by mutations in the ATP7B gene. ATP7B encodes a copper transporting ATPase involved in the efflux of copper from cells. The clinical features in Wilson disease are a result of copper excess in specific cells.read more

Tests Available

By gene: ATP7B
Next Generation Sequencing
Test Code: 1381
Deletion / Duplication
Test Code: 1382
NGS/Del Dup Comprehensive
Test Code: 1689

Test Details

Technical Information
Disease Groups: 
Metabolic and Endocrine Disorders
CPT Codes: 
81406 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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