Spinobulbar Musc Atrophy, Kennedy's
GTR Test Accession: Help GTR000593148.1
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2021-05-24
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Diagnosis; Pre-symptomatic; Predictive; ...
Kennedy disease
Genes (1): Help
AR (Xq12)
Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Individuals with clinical features of spinobulbar muscular atrophy
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Emily Lauer, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
gcmolgen@mayo.edu
1-800-533-1710
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
https://www.mayocliniclabs.com/test-catalog/Specimen/35542
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
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 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic; Predictive; Risk Assessment
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Pinsky L, Beitel LK, Trifiro MA: Spinobulbar Muscular Atrophy. In The Metabolic and Molecular Basis of Inherited Disease. Vol 4. 8th edition. Edited by CR Scriver. AL Beaudet, WS Sly, et al. New York, McGraw-Hill Book Company, 2001, pp 4147-4157

Target population: Help
Individuals with clinical features of spinobulbar muscular atrophy
View citations (1)
  • Pinsky L, Beitel LK, Trifiro MA: Spinobulbar Muscular Atrophy. In The Metabolic and Molecular Basis of Inherited Disease. Vol 4. 8th edition. Edited by CR Scriver. AL Beaudet, WS Sly, et al. New York, McGraw-Hill Book Company, 2001, pp 4147-4157
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
Research:
Is research allowed on the sample after clinical testing is complete? Help
Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Recommended fields not provided:
Technical Information
Test Procedure: Help
Direct mutation analysis. A PCR-based assay is used to detect amplification-type mutations (CAG-repeat expansion) within the AR gene.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy ≥ 99%
Assay limitations: Help
For predictive testing, it is important to first document the presence of a CAG-repeat amplification in the androgen receptor (AR) gene in an affected family member to confirm that molecular expansion is the underlying mechanism of disease in the family. We strongly recommend that patients undergoing predictive testing receive genetic … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Platform PT performed
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.