GTR Test Accession:
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GTR000508988.4
Last updated in GTR: 2021-10-02
View version history
GTR000508988.4, last updated: 2021-10-02
GTR000508988.3, last updated: 2020-09-29
GTR000508988.2, last updated: 2019-10-08
GTR000508988.1, last updated: 2013-11-28
Last annual review date for the lab: 2023-09-06
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic
Conditions (1):
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Kennedy disease
Genes (1):
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AR (Xq12)
Methods (1):
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Molecular Genetics - Targeted variant analysis: Trinucleotide repeat by PCR or Southern Blot
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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SBMA
Specimen Source:
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- Amniocytes
- Amniotic fluid
- Bone marrow
- Chorionic villi
- Cord blood
- Fetal blood
- Fresh tissue
- Frozen tissue
- Isolated DNA
- Peripheral (whole) blood
- Product of conception (POC)
- View specimen requirements
Lab contact:
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Contact Policy:
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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:
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Currently, samples are only accepted from residents of Canada. Please use the General Requisition form on our website.
Order URL
Order URL
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Test strategy,
Test development
Conditions
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Total conditions: 1
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 1
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
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:
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Presymptomatic testing will only be performed following genetic counselling by a recognized genetic service
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Almost 100% of individuals with SBMA have a trinucleotide repeat expansion in exon 1 of the AR gene.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Inter-Laboratory
Yes
Method used for proficiency testing: Help
Inter-Laboratory
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
Not Applicable
Additional Information
Clinical resources:
Molecular resources:
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.