Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000506048.4
CAP
Last updated in GTR: 2020-06-30
View version history
GTR000506048.4, last updated: 2020-06-30
GTR000506048.3, last updated: 2019-07-26
GTR000506048.2, last updated: 2016-08-10
GTR000506048.1, last updated: 2014-08-05
Last annual review date for the lab: 2024-06-28
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At a Glance
Methods (1):
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Cytogenetics - FISH-metaphase: Other
Target population: Help
Individuals with clinical symptoms consistent with Smith Magenis Syndrome.
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Amniocytes
- Peripheral (whole) blood
- View specimen requirements
Test Order Code:
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14611
View other test codes
View other test codes
Lab contact:
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Cytogenetic Department,
949-728-4307
949-728-4307
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.
Informed consent required:
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Based on applicable state law
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
How to Order,
Test strategy,
Test development
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion | Associated condition |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
FISH-metaphase
Other
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Target population:
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Individuals with clinical symptoms consistent with Smith Magenis Syndrome.
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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical validity and sensitivity ~90%; Analytic specificity >99%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Clinical resources:
Molecular resources:
Consumer resources:
IMPORTANT NOTE:
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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.