Kennedy disease
GTR Test Accession: Help GTR000004838.2
Last updated in GTR: 2023-09-25
Last annual review date for the lab: 2023-09-25 LinkOut
At a Glance
Diagnosis; Pre-symptomatic; Risk Assessment
Kennedy disease
Genes (1): Help
AR (Xq12)
Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Molecular genetic testing is used to confirm diagnosis in males …
Not provided
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
  • Licensed Physician
Lab contact: Help
Claudia Carriles, MS, Certified Genetic counselor, CGC, Genetic Counselor
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 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:
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
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:
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

Method used for proficiency testing: Help

Description of PT method: Help
Samples are exchanged between different diagnostic laboratories twice a year.
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.