GTR Test Accession:
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GTR000520911.2
CAP
Last updated in GTR:
2022-01-19
View version history
GTR000520911.2,
last updated:
2022-01-19
GTR000520911.1,
registered in GTR:
2018-01-10
Last annual review date for the lab: 2023-01-20
Past due
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At a Glance
Test purpose:
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Diagnosis
Conditions (114):
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Proximal 16p11.2 microdeletion syndrome;
13q partial monosomy syndrome;
15q11q13 microduplication syndrome
more...
SNP markers
Methods (1):
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Cytogenetics - Fluorescence in situ hybridization (FISH): Microarray
Target population: Help
complete genome
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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CSM
Manufacturer's name:
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Affymetrix Cytoscan HD Array System
Specimen Source:
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- Bone marrow
- Cell culture
- Cord blood
- Fibroblasts
- Fresh tissue
- Isolated DNA
- Peripheral (whole) blood
- Skin
Who can order: Help
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
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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Complete and submit a Cytogenetics test requistion and patient informed consent.
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Pre-test genetic counseling required:
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Yes
Post-test genetic counseling required:
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Yes
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 114
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
Fluorescence in situ hybridization (FISH)
Microarray
Affymetrix Cytoscan HD Array
Clinical Information
Test purpose:
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Diagnosis
Target population:
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complete genome
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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No.
No.
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 Procedure:
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microarray analysis
Test Platform:
Affymetrix CytoScan HD Array
Test Confirmation:
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FISH, Karyotype
Test Comments:
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New York State conditional validation
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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100% ISCA constitutional genes, 100% cancer genes, 98% OMIM morbid genes
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:
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:
FDA exercises enforcement discretion
NYS CLEP Approval:
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Number:
Status: Pending
Status: Pending
Additional Information
Clinical resources:
Molecular 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.