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Kennedy disease
Clinical Genetic Test
Help
offered by
Molecular Diagnostic Laboratory
View lab's test page
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GTR Test Accession: Help GTR000004838.3
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2024-10-02
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Last annual review date for the lab: 2024-10-02 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Pre-symptomatic; Risk Assessment
Conditions (1): Help
Kennedy disease
Genes (1): Help
AR (Xq12)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Target population: Help
Molecular genetic testing is used to confirm diagnosis in males …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostic Laboratory
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Lab contact: Help
Claudia Carriles, MS, Certified Genetic counselor, CGC, Genetic Counselor
ccarriles@sharedhealthmb.ca
204-787-4033
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
4 mL EDTA whole blood
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Test strategy
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
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic; Risk Assessment
Target population: Help
Molecular genetic testing is used to confirm diagnosis in males known or suspected to have Kennedy disease (also known as spinal and bulbar muscular atrophy) and determine the carrier status in females.
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 Comments: Help
This clinical service test is available to Canadian residents only.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy (10/10) = 100%;
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No

Method used for proficiency testing: Help
Inter-Laboratory

Description of PT method: Help
Samples are exchanged between different diagnostic laboratories twice a year.
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Major CAP category, CAP category, CAP test list
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.