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Huntington Disease
Clinical Genetic Test
Help
offered by
UCSF Molecular Diagnostics Laboratory
View lab's test page
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GTR Test Accession: Help GTR000500339.4
CAP
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2021-10-22
View version history
Last annual review date for the lab: 2022-10-27 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Pre-symptomatic
Conditions (1): Help
Huntington disease
Genes (1): Help
HTT (4p16.3)
Methods (2): Help
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: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
UCSF Molecular Diagnostics Laboratory
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
HUNT
View other test codes
LOINC codes: Help
**LOINC codes notice
Lab contact: Help
Farid Chehab, PhD, MB(ASCP), Lab Director
farid.chehab@ucsf.edu
415-476-0310
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
Order URL
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
No
Recommended fields not provided:
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
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: Help
Diagnosis; Pre-symptomatic
Target population: Help
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: Help
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: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
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? Help
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: Help
Not provided
Additional Information

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