Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000500112.8
Last updated in GTR: 2023-08-30
View version history
GTR000500112.8, last updated: 2023-08-30
GTR000500112.7, last updated: 2023-07-28
GTR000500112.6, last updated: 2019-10-04
GTR000500112.5, last updated: 2018-10-03
GTR000500112.4, last updated: 2016-12-15
GTR000500112.3, last updated: 2016-12-14
GTR000500112.2, last updated: 2014-11-04
GTR000500112.1, last updated: 2013-12-03
Last annual review date for the lab: 2023-07-28
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At a Glance
Test purpose:
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Diagnosis;
Risk Assessment
Conditions (16):
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Congenital chromosomal disease; Autism spectrum disorder; Autosomal chromosomal disorder; ...
Human genome
Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Microarray; ...
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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- Amniocytes
- Amniotic fluid
- Buccal swab
- Cell culture
- Chorionic villi
- Cord blood
- Fetal blood
- Fibroblasts
- Fresh tissue
- Frozen tissue
- Isolated DNA
- Paraffin block
- Peripheral (whole) blood
- Product of conception (POC)
- Skin
- View specimen requirements
Who can order: Help
- Health Care Provider
Test Order Code:
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2003414, 2006267, 2005633, 3004273, 2002366
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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Cytogenomic SNP Microarray - test code 2003414
Cytogenomic SNP Microarray Buccal Swab - test code 2006267
Genomic SNP Microarray, Products of Conception - test code 2005633
Cytogenomic Molecular Inversion Probe Array FFPE Tissue - Products of Conception - test code 3004273
Cytogenomic SNP Microarray - Fetal - test code 2002366
Order URL
Cytogenomic SNP Microarray Buccal Swab - test code 2006267
Genomic SNP Microarray, Products of Conception - test code 2005633
Cytogenomic Molecular Inversion Probe Array FFPE Tissue - Products of Conception - test code 3004273
Cytogenomic SNP Microarray - Fetal - test code 2002366
Order URL
Informed consent required:
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Decline to answer
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,
Test strategy,
Test development
Conditions
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Total conditions: 16
| Condition/Phenotype | Identifier |
|---|
Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 1
| Chromosomal region/Mitochondrion | Associated condition |
|---|
Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Microarray
Detection of homozygosity
Microarray
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Risk Assessment
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Constitutional copy number variants (CNV) detected in the Genomic Microarray (GMA) Laboratory at ARUP Laboratories go through a standardized, comprehensive evaluation and classification process. This process was developed using guidance provided by the American College of Medical Genetics and Genomics (ACMG)
Constitutional copy number variants (CNV) detected in the Genomic Microarray (GMA) Laboratory at ARUP Laboratories go through a standardized, comprehensive evaluation and classification process. This process was developed using guidance provided by the American College of Medical Genetics and Genomics (ACMG)
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Decline to answer.
Decline to answer.
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,
Target population,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Platform:
Affymetrix CytoScan HD Array
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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For known abnormalities with sufficient coverage on the array platform, sensitivity and specificity exceeded 95%; however, as this is a whole genome technology, all regions of the genome that are covered by this technology could not be evaluated as all true positives and true negatives are not known. Therefore, specificity …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations
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For a list of databases used in CNV classification, please refer to ARUP Constitutional CNV Assertion Criteria, which can be found on ARUP's Genetics website at www.aruplab.com/genetics
For a list of databases used in CNV classification, please refer to ARUP Constitutional CNV Assertion Criteria, which can be found on ARUP's Genetics website at www.aruplab.com/genetics
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
Reviews:
Clinical resources:
Practice guidelines:
Consumer resources:
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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.