Spinal bulbar muscular atrophy, Kennedy syndrome
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000316644.1
INHERITED DISEASENERVOUS SYSTEM
Last updated in GTR: 2014-06-25
Last annual review date for the lab: 2022-04-08 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Kennedy disease
Genes (1): Help
AR (Xq12)
Molecular Genetics - Targeted variant analysis: Other
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Synlab MVZ Humane Genetik München
View lab's website
Test short name: Help
SBMA
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
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
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Other
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
sensitivity 98%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
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.