GTR Test Accession:
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GTR000290804.2
Last updated in GTR:
2013-05-28
View version history
GTR000290804.2,
last updated:
2013-05-28
GTR000290804.1,
registered in GTR:
2014-03-24
Last annual review date for the lab: 2022-01-21
Past due
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Screening
Conditions (1):
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Wilson disease
Genes (1):
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ATP7B (13q14.3)
Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Amniotic fluid
- Cell culture
- Chorionic villi
- Fibroblasts
- Isolated DNA
- Peripheral (whole) blood
Who can order: Help
- Genetic Counselor
Lab contact:
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Contact Policy:
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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:
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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:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service:
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Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Test strategy,
Test development
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 2
Method Category
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Test method
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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:
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Diagnosis;
Mutation Confirmation;
Screening
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Missense and silent changes unknown to the HGMD database and to SNP databases (SNP137, 1000 genomes)
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?
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No.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
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No.
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:
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Carrier testing is restricted to families with previously identified mutations. Prenatal testing by appointment only
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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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?
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No
No
VUS:
Software used to interpret novel variations
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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
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:
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Not provided
Additional Information
Clinical resources:
Molecular resources:
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.