Wilson disease
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000553937.1
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2017-06-18
Last annual review date for the lab: 2023-11-29 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Wilson disease
Genes (1): Help
ATP7B (13q14.3)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Individuals suspected of Wilson disease with a combination of hepatic, …
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Juno Genomics
View lab's website
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Lab contact: Help
Juan Geng, PhD, Medical Director
gjuan@junogenomics.com
+86 571 8902 8665
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
Specimen type: whole blood, buccal swab, DBS, etc.
Days that sample should be accepted: 72h for whole blood, 72h for buccal swab
Required forms: a paper Test Requisition Form and Consent Form
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
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: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical utility: Help
Establish or confirm diagnosis
View citations (2)
  • Diagnosis and phenotypic classification of Wilson disease. Ferenci P, et al. Liver Int. 2003;23(3):139-42. doi:10.1034/j.1600-0676.2003.00824.x. PMID: 12955875.
  • EASL Clinical Practice Guidelines: Wilson's disease. , et al. J Hepatol. 2012;56(3):671-85. doi:10.1016/j.jhep.2011.11.007. PMID: 22340672.

Target population: Help
Individuals suspected of Wilson disease with a combination of hepatic, neurologic, psychiatric, and ocular findings.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Joingenome includes VUSs in the result report according to ACMG guidelines. Factors that can increase the probability of a VUS being clinically relevant include: Variant is rare, de novo, predicted to be deleterious by computer models, and/or in a gene or region that is highly conserved during evolution.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. The Medical Director is responsible for systematically re-evaluation the previous interpretation results of the genetic testings over a period of one year.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytic sensitivity:90.5% Analytic specificity:95%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

PT Provider: Help
National center for Clinical Laboratories of China

Description of internal test validation method: Help
Bi-directional Sanger sequencing
VUS:
Software used to interpret novel variations Help
SIFT, PolyPhen2, CADD,REVEL,PROVEN, Mutation Taster

Laboratory's policy on reporting novel variations Help
Joingenome includes novel variant(s) in the result report when the gene is clinically relevant, predicted to be deleterious by computer models, and/or in a gene or region that is highly conserved during evolution, co-segregation with disease in the family.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
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.