Huntington Disease
GTR Test Accession: Help GTR000502937.5
CAP
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2024-07-26
Last annual review date for the lab: 2024-07-30 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic
Huntington disease
Genes (1): Help
HTT (4p16.3)
Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Individuals exhibiting symptoms consistent with Huntington Chorea; the CAG trinucleotide …
The CAG trinucleotide repeat is found in 99% of individuals …
Establish or confirm diagnosis; Predictive risk information for patient and/or family members
Ordering Information
Offered by: Help
Center for Genetics at Saint Francis
View lab's website
View lab's test page
Test short name: Help
HD
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Lab contact: Help
Lynne Whetsell, BS, MB(ASCP), Staff
lhwhetsell@saintfrancis.com
918-502-3808
Tonya Jones, BS, CG(ASCP), MB(ASCP), Administrator
tsjones@saintfrancis.com
918-502-1730
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
1. Choose the desired test from the Test Directory.
2. Obtain information on the required specimen for the specific test from the Test Information page.
3. Fill out the necessary test requisition form and any other required forms from the Forms page.
4. Provide the required Billing information or make …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
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
Trinucleotide repeat by PCR or Southern Blot
Applied Biosystems 3130 Capillary Sequencing System
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic
Clinical validity: Help
The CAG trinucleotide repeat is found in 99% of individuals with HD.
Clinical utility: Help
Establish or confirm diagnosis

Predictive risk information for patient and/or family members

Target population: Help
Individuals exhibiting symptoms consistent with Huntington Chorea; the CAG trinucleotide repeat is found in 99% of individuals with HD. Individuals at risk for HD based on family history.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Test Confirmation: Help
Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity, specificity and accuracy greater than 99%; determined by in-house validations.
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:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
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.