Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000506032.6
CAP
Last updated in GTR: 2022-06-21
View version history
GTR000506032.6, last updated: 2022-06-21
GTR000506032.5, last updated: 2021-07-13
GTR000506032.4, last updated: 2020-07-15
GTR000506032.3, last updated: 2019-07-26
GTR000506032.2, last updated: 2018-07-25
GTR000506032.1, last updated: 2016-08-10
Last annual review date for the lab: 2023-07-07
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At a Glance
Test purpose:
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Diagnosis
Conditions (9):
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Pregnancy loss, recurrent, susceptibility to, 1; Autism spectrum disorder; Cognitive impairment; ...
Human genome
Methods (1):
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Cytogenetics - Karyotyping: G-banding
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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Specimen Source:
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- Cord blood
- Peripheral (whole) blood
- View specimen requirements
Test Order Code:
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14596
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: 9
| Condition/Phenotype | Identifier |
|---|
Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 1
| Chromosomal region/Mitochondrion | Associated condition |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Karyotyping
G-banding
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical specificity and sensitivity >99% at 6-8 Mb resolution
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
Reviews:
Clinical resources:
Molecular resources:
Consumer 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.