Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000561875.4
Last updated in GTR:
2024-10-11
View version history
GTR000561875.4,
last updated:
2024-10-11
GTR000561875.3,
last updated:
2019-10-10
GTR000561875.2,
last updated:
2019-10-08
GTR000561875.1,
registered in GTR:
2018-10-19
Last annual review date for the lab: 2024-10-11
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At a Glance
Test purpose:
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Diagnosis
Conditions (3):
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Essential fructosuria;
Glycogen storage disease;
Pyruvate carboxylase deficiency
Genes (29):
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Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
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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- Peripheral (whole) blood
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.
Informed consent required:
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Yes
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,
How to Order,
Test strategy,
Test development
Conditions
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Total conditions: 3
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 29
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq
Clinical Information
Test purpose:
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Diagnosis
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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The detected variations are evaluated according to American College of Medical Genetics and Genomics (ACMG) recommendations (Richards S et al. Genet Med 17, 405-424, 2015).
The detected variations are evaluated according to American College of Medical Genetics and Genomics (ACMG) recommendations (Richards S et al. Genet Med 17, 405-424, 2015).
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided.
Not provided.
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Our method will identify the missense and nonsense mutations and small indels. Larger CNVs will be identified in specified genes. Our diagnostic criteria requieres: (I) at least 95% of the region of interest have over 20-fold per base coverage, (II) the regions have a mean coverage 100-120x; regions with low …
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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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Genome Analysis Toolkit (GATK), ANNOVAR Annotation Tool
Laboratory's policy on reporting novel variations Help
All novel variations are evaluated for potential pathogenicity and included in the written report.
Genome Analysis Toolkit (GATK), ANNOVAR Annotation Tool
Laboratory's policy on reporting novel variations Help
All novel variations are evaluated for potential pathogenicity and included in the written report.
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
Reviews:
Clinical resources:
Molecular resources:
Consumer 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.