Clinical Genetic Test
offered by
GTR Test Accession:
Help
GTR000506035.7
CAP
Last updated in GTR: 2023-07-28
View version history
GTR000506035.7, last updated: 2023-07-28
GTR000506035.6, last updated: 2023-07-21
GTR000506035.5, last updated: 2022-07-12
GTR000506035.4, last updated: 2021-06-29
GTR000506035.3, last updated: 2019-07-26
GTR000506035.2, last updated: 2018-07-25
GTR000506035.1, last updated: 2016-08-10
Last annual review date for the lab: 2024-06-28
LinkOut
At a Glance
Methods (1):
Help
Cytogenetics - Karyotyping: G-banding
Target population: Help
Not provided
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Specimen Source:
Help
- Cord blood
- Peripheral (whole) blood
Test Order Code:
Help
14595
View other test codes
View other test codes
Lab contact:
Help
Cytogenetic Department,
949-728-4307
949-728-4307
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
Based on applicable state law
Pre-test genetic counseling required:
Help
No
Post-test genetic counseling required:
Help
No
Recommended fields not provided:
How to Order,
Test strategy,
Test development
Conditions
Help
Total conditions: 9
| Condition/Phenotype | Identifier |
|---|
Test Targets
Chromosomal regions/Mitochondria
Help
Total chromosomal regions/mitochondria: 1
| Chromosomal region/Mitochondrion | Associated condition |
|---|
Methodology
Total methods: 1
Method Category
Help
Test method
Help
Instrument *
Karyotyping
G-banding
* Instrument: Not provided
Clinical Information
Test purpose:
Help
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:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
Analytical specificity and sensitivity >99% at 6-8 Mb resolution
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
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:
Help
Not provided
Additional Information
Reviews:
Clinical 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.