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Huntington Disease (HD) CAG Repeat Expansion
Clinical Genetic Test
Help
offered by
ARUP Laboratories, Molecular Genetics and Genomics
View lab's test page
LinkOut
GTR Test Accession: Help GTR000500422.4
NYS CLEP
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2024-07-11
View version history
Last annual review date for the lab: 2024-07-12 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Pre-symptomatic
Conditions (1): Help
Huntington disease
Genes (1): Help
HTT (4p16.3)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: PCR
Target population: Help
adult symptomatic individuals; adults with family history of HD
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
ARUP Laboratories, Molecular Genetics and Genomics
View lab's website
View lab's test page
Test short name: Help
HD PCR
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
Test Order Code: Help
3016908
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.
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
How to Order, Lab contact for this test, 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: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic
Target population: Help
adult symptomatic individuals; adults with family history of HD
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
N/A

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
N/A

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided. N/A
Research:
Is research allowed on the sample after clinical testing is complete? Help
N/A
Recommended fields not provided:
Clinical validity, Clinical utility, 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?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity: 99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory

CAP Testing Information Help
CAP/ACMG Molecular Genetics Series; Huntington disease (HTT gene); MGL2
VUS:
Software used to interpret novel variations Help
N/A

Laboratory's policy on reporting novel variations Help
N/A
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method
Regulatory Approval
FDA Review: Help
Not provided
NYS CLEP Approval: Help
Number: 4196
Status: Approved
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.