Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000593808.3
CAP
Last updated in GTR: 2021-11-16
View version history
GTR000593808.3, last updated: 2021-11-16
GTR000593808.2, last updated: 2021-08-23
GTR000593808.1, last updated: 2021-08-20
Last annual review date for the lab: 2024-06-14
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At a Glance
Test purpose:
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Diagnosis;
Risk Assessment
Conditions (2):
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22q11.2 deletion syndrome;
DiGeorge syndrome
22q11.2
Methods (2):
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Cytogenetics - FISH-interphase: Fluorescence in situ hybridization (FISH); ...
Target population: Help
Individuals suspected of having a specific recurrent microdeletion syndrome, or …
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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Microdeletion FISH
Specimen Source:
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- Amniotic fluid
- Cell culture
- Cord blood
- Cystic hygroma fluid
- Fetal blood
- Fresh tissue
- Peripheral (whole) blood
- Product of conception (POC)
- Skin
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
Test Order Code:
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FISHON
View other test codes
View other test codes
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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Samples can be accepted 7 days a week (Monday - Sunday). All samples must be labeled with minimum of two patient identifying information (e.g. Patient Name and Date of Birth). Please submit all samples with a completed test requisition form.
Order URL
Order URL
Test service:
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Confirmation of research findings
Informed consent required:
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No
Test strategy:
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Reflex to microarray analysis available
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test,
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: 2
Method Category
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Test method
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Instrument *
FISH-interphase
Fluorescence in situ hybridization (FISH)
FISH-metaphase
Fluorescence in situ hybridization (FISH)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Risk Assessment
Target population:
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Individuals suspected of having a specific recurrent microdeletion syndrome, or family members of proband with known microdeletion syndrome.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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No.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
Recommended fields not provided:
Clinical validity,
Clinical utility,
What is the protocol for interpreting a variation as a VUS?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Platform:
None/not applicable
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Locus-specific FISH probe will be used. Analysis of 10 metaphase and 40 interphase cells will be performed.
Assay limitations:
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Deletion/duplication size of less than 200 kb may not be detected.
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
College of American Pathologists, CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
College of American Pathologists, CAP
Recommended fields not provided:
Test Confirmation,
Citations to support 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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Category:
Not Applicable
Additional Information
Reviews:
Clinical 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.