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Wilson Disease Sequencing Analysis

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.

Test Name: Wilson Disease Sequencing Analysis
Test Code:
ATP7B
Test Description:
PCR and sequencing of the ATP7B gene.
Synonyms:
Indication:
This test is used to provide additional information regarding diagnosed patients or as a secondary confirmation of diagnosis.
Related Tests: Wilson Disease, Known Mutation Analysis  
This test is used for carrier or diagnostic testing at-risk relatives. Mutations must be known.

Clinical Links: Wilson Disease GeneReview
Availability:
Set up Mon - Fri
Turnaround Time:
2-3 weeks
Methodology:
PCR and sequencing
Reference Range:
Interpretive report will be provided
Requisition:
Consent Form:
Sample Requirements: Type
Whole blood: 1-3 mL in EDTA (purple top) or ACD (yellow top).
DNA: 5-10ug extracted DNA

Processing
Do not spin. Keep at room temperature.

Shipping
Room temperature via overnight shipping. Blood samples must be processed within 3 days of collection.
Samples Received:
Monday – Friday 8 am – 5 pm PST
Special Considerations:
Cost:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions
CPT Code:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions