GTR Test Accession:
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GTR000500339.4
CAP
Last updated in GTR:
2021-10-22
View version history
GTR000500339.4,
last updated:
2021-10-22
GTR000500339.3,
last updated:
2021-10-21
GTR000500339.2,
last updated:
2020-10-20
GTR000500339.1,
registered in GTR:
2016-12-18
Last annual review date for the lab: 2022-10-27
Past due
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At a Glance
Test purpose:
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Diagnosis;
Pre-symptomatic
Conditions (1):
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Huntington disease
Genes (1):
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HTT (4p16.3)
Methods (2):
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Molecular Genetics - Targeted variant analysis: PCR; Trinucleotide repeat by PCR or Southern Blot
Target population: Help
Individuals with family history of HD or symptomatic individuals with …
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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- Amniocytes
- Amniotic fluid
- Cell culture
- Chorionic villi
- Peripheral (whole) blood
Who can order: Help
- Licensed Physician
Test Order Code:
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LOINC codes:
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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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Informed consent required:
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Yes
Pre-test genetic counseling required:
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Yes
Post-test genetic counseling required:
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No
Recommended fields not provided:
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
Targeted variant analysis
PCR
Other
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose:
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Diagnosis;
Pre-symptomatic
Target population:
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Individuals with family history of HD or symptomatic individuals with movement disorders
Recommended fields not provided:
Clinical validity,
Clinical utility,
What is the protocol for interpreting a variation as a VUS?,
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
Test Procedure:
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Allele repeat sizes are determined by PCR and fragment analysis. Homozygous individuals for an allele are reflexed to repeat-primed PCR for the determination of true homozygosity or presence of a large repeat not detected by conventional PCR.
View citations (1)
- ACMG/ASHG statement. Laboratory guidelines for Huntington disease genetic testing. The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group. Am J Hum Genet. 1998;62(5):1243-7. PMID: 9545416.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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This assay has a 99% sensitivity and 99% specificity at detecting CAG triplet repeats associated with HD
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
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:
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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.