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Wilson Disease
Clinical Genetic Test
Help
offered by
Department of Clinical Genetics
GTR Test Accession: Help GTR000290804.2
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2013-05-28
View version history
Last annual review date for the lab: 2022-01-21 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Screening
Conditions (1): Help
Wilson disease
Genes (1): Help
ATP7B (13q14.3)
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Department of Clinical Genetics
View lab's website
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
Lab contact: Help
Lisbeth Moller, PhD, Staff
kennedy-medgenlab.rigshospitalet@regionh.dk
+45 43260100
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
A completed referral note, or a letter stating name, dob, referral reason and the test that are requested. Also an address where to send the report and the invoice.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Applied Biosystems 3130XL capillary sequencing instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3130XL capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Screening
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Missense and silent changes unknown to the HGMD database and to SNP databases (SNP137, 1000 genomes)

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No.
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
Carrier testing is restricted to families with previously identified mutations. Prenatal testing by appointment only
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The bidirectional sequencing of the entire ATP7B coding region and flanking sequences combined ved MLPA test for exon deletions or duplications has an analytical sensitivity and specificity of 99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
Variants are analysed using SIFT, Polyphen, Align GVGD and Mutation Taster

Laboratory's policy on reporting novel variations Help
The person who ordered the test will receive a written report by ordinary mail
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.