GTR Test Accession:
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GTR000053276.3
Last updated in GTR: 2023-07-19
View version history
GTR000053276.3, last updated: 2023-07-19
GTR000053276.2, last updated: 2023-04-06
GTR000053276.1, last updated: 2014-04-15
Last annual review date for the lab: 2024-04-16
LinkOut
At a Glance
Test purpose:
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Diagnosis
Conditions (2):
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DiGeorge syndrome;
Velocardiofacial syndrome
22q11.2
Methods (1):
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Molecular Genetics - Deletion/duplication analysis: RT-PCR with gel analysis
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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- Peripheral (whole) blood
Who can order: Help
- Health Care Provider
Lab contact:
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Pamela Blumenschein, MS, Certified Genetic counselor, CGC, Genetic Counselor
pamela.blumenschein@albertaprecisionlabs.ca
780-407-1015
Susan Christian, PhD, Certified Genetic counselor, CGC, Genetic Counselor
susan.christian@albertaprecisionlabs.ca
780-407-1015
Margaret Lilley, MSc, Certified Genetic counselor, CGC, Genetic Counselor
margaret.lilley@albertahealthservices.ca
780-407-1015
pamela.blumenschein@albertaprecisionlabs.ca
780-407-1015
Susan Christian, PhD, Certified Genetic counselor, CGC, Genetic Counselor
susan.christian@albertaprecisionlabs.ca
780-407-1015
Margaret Lilley, MSc, Certified Genetic counselor, CGC, Genetic Counselor
margaret.lilley@albertahealthservices.ca
780-407-1015
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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Please contact the laboratory for a requisition form and additional information.
Informed consent required:
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No
Pre-test genetic counseling required:
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Yes
Post-test genetic counseling required:
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No
Recommended fields not provided:
Test Order Code,
Test strategy,
Test development
Conditions
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Total conditions: 2
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 *
Deletion/duplication analysis
RT-PCR with gel analysis
* 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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>99% sensitivity
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
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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Not provided
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
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.