Sign in →

Test Code ATP7B KNWN Wilson Disease Known Mutation

Clinical System Name

Wilson Disease Known Mutation Analysis Request

Description

This test involves targeted analysis for mutations previously identified through clinical testing of a family member or  research testing of the individual.  It can be used for carrier testing for at-risk relatives and prenatal testing for confirmed carriers. Mutations must be known. For full gene sequencing please see Wilson Disease 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. 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. 

Sample Requirements

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

Minimum: 10µg

Note: 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

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.

Stability

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

 

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

Availability

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

 

Performing Laboratory

Seattle Children's Laboratory

Department

Department:  Molecular Genetics Laboratory

Phone: 206-987-3872

 

Lab Client Services: 206-987-2617

 

Lab Genetic Counselors: LabGC@seattlechildrens.org

Reference Range

Interpretive report will be provided

Methodology

Method: PCR + Sequencing

 

Limitations: This test is for targeted known mutation analysis only.  Mutations must be known.

CPT Codes

81403 (updated 2/2/16 by jconta)

Special Instructions

Please provide copies of proband reports when requesting known mutation analysis for cases NOT performed by Seattle Children's Lab.

 

Links to:  Wilson Disease GeneReviews

Requisition

Molecular Genetics

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 ATP7B gene mutations in affected individuals. 

 

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