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Test Code LAB1926 Wilson Disease Sequencing

Clinical System Name

Wilson Disease (ATP7B) Sequencing


Wilson disease is an autosomal recessive disorder of copper metabolism.  Sequencing of the ATP7B gene can identify greater than 98% of mutations in affected individuals.


ATP7B full gene sequencing is appropriate for individuals with:

  • Liver disease
  • Neurologic presentations
  • Psychiatric disturbance
  • Low serum copper & ceruloplasmin levels
  • Increased urine copper
  • Kayser-Fleisher rings in the cornea
  • Increased hepatic copper levels


Also available: targeted analysis for ATP7B sequence variants previously identified through clinical testing of a family member or research testing of the individual.  Please provide copies of proband reports when requesting known mutation analysis for cases NOT performed by Seattle Children's Lab.

Sample Requirements

Note: For patients who have had a whole blood transfusion, wait 10 days post transfusion to draw for genetic testing. No wait time is necessary for blood or saliva collection if the patient received leuko-reduced red cells or plasma.


Specimen: Whole blood, cord blood

Container(s): Lavender/EDTA, Yellow/ACD A or B

Preferred Vol: 3 mL

Minimum Vol: 1 mL


Note: Heparin samples (Green tops) are unacceptable.


Specimen: Extracted DNA from EDTA blood

Minimum: 10µg

Note: Isolation of nucleic acids for clinical testing must be performed in a CLIA-certified
laboratory or a laboratory meeting equivalent requirements as determined by the CAP
and/or the CMS. DNA concentration minimum 50 µg/mL; 260/280 ratio 1.70-2.00.


Specimen: Cultured cells

Acceptable:  Fibroblasts

Container(s): T-25 flasks

Preferred Vol: 2 flasks


Specimen: Saliva collected using Oragene Dx OGD-575/675 collection kit.

Container: Oragene Dx OGD-575/675 collection kit

IMPORTANT NOTE: Manufacturer instructions must be followed. The Oragene Dx OGD575/675 kit is not for children under 6 months. Contact Lab Client Services for more information or to obtain a kit 206-987-2617,

Processing Instructions

Reject due to: Heparin

Spin: No

Aliquot: No

Temp: Refrigerate

Storage location: Molecular Genetics box in CPA refrigerator #2


Off-site collection: Refrigerate blood samples until ready to ship.  Transport all sample types at room temperature via overnight shipping.


Specimen Type Temperature Time
Cultured cells Room temp 3 days
Whole blood, extracted DNA Room temp 3-5 days
Whole blood, extracted DNA Refrigerated 7 days
Extracted DNA Frozen ok
Saliva, ORAgene Dx OGD-575/675 Room Temp 2 weeks


Note: Whole blood samples > 7days may be submitted to be assessed by our lab for acceptability for testing.


STAT Performed TAT
Contact lab Monday - Friday 2-3 weeks


Performing Laboratory

Seattle Children's Laboratory


Department:  Molecular Genetics Laboratory

Phone: 206-987-3872


Lab Client Services: 206-987-2617


Lab Genetic Counselor:

CPT Codes

81406 (updated 2/2/16 by jconta)


Method: Bi-directional sequencing of all exons and exon-intron boundaries


Limitations: Mutations in the promoter region, large deletions, large duplications, or rare recombinant mutations may not be detected by this method.

Reference Range

Interpretive report will be provided


Molecular Genetics

Special Instructions

Links to: Wilson Disease GeneReviews

Clinical Utility

Wilson disease is an autosomal recessive disorder of copper metabolism. Copper accumulation in tissues and organs can lead to liver disease, neurological symptoms including movement disorders, dysarthria, dystonia, migraines and seizures; and psychiatric symptoms including depression, personality changes and psychoses. Many individuals will have characteristic changes to their cornea called Kayser-Fleischer rings.

The age of onset can be from childhood to adulthood; signs and symptoms are rarely observed in children under 3 years of age. Children tend to present with liver disease as their primary symptom, whereas most neurological and psychiatric symptoms tend to arise in adulthood.

Full gene sequencing will identify greater than 98% of mutations in affected individuals.

Carrier testing for biological family members is available once mutations are known.