GTR Test Accession:
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GTR000560687.6
NYS CLEP
CAP
Last updated in GTR: 2023-04-03
View version history
GTR000560687.6, last updated: 2023-04-03
GTR000560687.5, last updated: 2022-05-03
GTR000560687.4, last updated: 2022-04-22
GTR000560687.3, last updated: 2019-04-24
GTR000560687.2, last updated: 2018-04-26
GTR000560687.1, last updated: 2018-04-03
Last annual review date for the lab: 2024-03-22
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At a Glance
Test purpose:
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Diagnosis
Conditions (3):
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Multiple congenital anomalies; Developmental delay; Intellectual disability
Human genome
Methods (1):
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Molecular Genetics - Deletion/duplication analysis: Microarray
Target population: Help
Congenital anomalies, intellectual disability, developmental delay
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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SNP
Specimen Source:
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- Fibroblasts
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
Test Order Code:
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5490
How to Order:
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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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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Lab contact for this test,
Contact policy,
Test strategy
Conditions
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Total conditions: 3
Condition/Phenotype | Identifier |
---|
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
Microarray
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Target population:
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Congenital anomalies, intellectual disability, developmental delay
Variant Interpretation:
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?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
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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This test is designed and validated to be capable of detecting >99% of described mutations in the gene(s) represented.
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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Category:
FDA exercises enforcement discretion
NYS CLEP Approval:
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Number:
53075
Status: Approved
Status: Approved
Additional Information
Reviews:
Clinical resources:
Consumer resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.