Cytogenomic SNP Microarray
GTR Test Accession: Help GTR000500112.8
Last updated in GTR: 2023-08-30
Last annual review date for the lab: 2023-07-28 LinkOut
At a Glance
Diagnosis; Risk Assessment
Congenital chromosomal disease; Autism spectrum disorder; Autosomal chromosomal disorder; ...
Molecular Genetics - Deletion/duplication analysis: Microarray; ...
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Ordering Information
Offered by: Help
ARUP Laboratories, Cytogenetics and Genomic Microarray
View lab's website
View lab's test page
Specimen Source: Help
  • 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: Help
2003414, 2006267, 2005633, 3004273, 2002366
View other test codes
Contact Policy: Help
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: Help
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
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 16
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Detection of homozygosity
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Risk Assessment
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
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? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Recommended fields not provided:
Technical Information
Test Platform:
Affymetrix CytoScan HD Array
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
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 … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Software used to interpret novel variations Help
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
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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