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25677 Wilson Disease, Full Gene Analysis (WDZ)

Wilson Disease, Full Gene Analysis (WDZ)
Test Code: WDZSO
Synonyms/Keywords
​ATP7B gene, WDMS
Useful For
​Diagnostic confirmation of Wilson disease
Specimen Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)		 Pediatric Minimum Volume
(no repeat)
​Whole Blood ​EDTA Lavender Top Tube (LTT) or ACD ​Any anticoagulant ​3 mL ​1 mL ​
Collection Processing Instructions
​Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
 
Specimen preferred to arrive within 96 hours of collection.
Forms:
1. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions
2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.
 
Specimen Stability Information
Specimen Type Temperature
​Whole Blood ​ ​ ​Ambient (preferred)
​Frozen
​Refrigerated
Interference
​Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical and biochemical findings, additional testing should be considered.
 
A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Medical Laboratories ​Performed weekly; Varies ​14 days Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when appropriate​
Reference Lab
Mayo Clinic Laboratories
Test Information
This test was developed and its performance characteristics determined by Marshfield Labs. This laboratory is certified under the Clinical Laboratory Improvement Amendments (CLIA) to perform high complexity testing.
 
​Ceruloplasmin, serum copper, and urine copper studies are recommended prior to submitting sample. Test includes sequencing of exons 1 through 21 and analysis for the common Sardinian promoter mutation.
Reference Range Information
Performing Location Reference Range
​Mayo Medical Laboratories ​Interpretive report
Interpretation
​All detected alterations are evaluated according to American College of Medical Genetics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Outreach CPTs
CPT Modifier
(if needed)		 Quantity Description Comments
​81406 ​ ​1 ​ ​
Classification
This test was developed and its performance characteristics determined by Marshfield Labs. This laboratory is certified under the Clinical Laboratory Improvement Amendments (CLIA) to perform high complexity testing.
​
Synonyms/Keywords
​ATP7B gene, WDMS
Ordering Applications
Ordering Application Description
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)		 Pediatric Minimum Volume
(no repeat)
​Whole Blood ​EDTA Lavender Top Tube (LTT) or ACD ​Any anticoagulant ​3 mL ​1 mL ​
Collection Processing
​Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
 
Specimen preferred to arrive within 96 hours of collection.
Forms:
1. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions
2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.
 
Specimen Stability Information
Specimen Type Temperature
​Whole Blood ​ ​ ​Ambient (preferred)
​Frozen
​Refrigerated
Interference
​Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical and biochemical findings, additional testing should be considered.
 
A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.
Useful For
​Diagnostic confirmation of Wilson disease
Reference Range Information
Performing Location Reference Range
​Mayo Medical Laboratories ​Interpretive report
Interpretation
​All detected alterations are evaluated according to American College of Medical Genetics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Mayo Medical Laboratories ​Performed weekly; Varies ​14 days Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when appropriate​
Reference Lab
Mayo Clinic Laboratories
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)		 Quantity Description Comments
​81406 ​ ​1 ​ ​
Classification
This test was developed and its performance characteristics determined by Marshfield Labs. This laboratory is certified under the Clinical Laboratory Improvement Amendments (CLIA) to perform high complexity testing.
​
For most current information refer to the Marshfield Laboratory online reference manual.