Classic view of this page
Cytogenomic SNP Microarray
Clinical Genetic Test
Help
offered by
ARUP Laboratories, Cytogenetics and Genomic Microarray
View lab's test page
LinkOut
GTR Test Accession: Help GTR000500112.10
INHERITED DISEASENERVOUS SYSTEMPSYCHIATRIC ... View more
Last updated in GTR: 2024-08-08
View version history
Last annual review date for the lab: 2024-07-11 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Risk Assessment
Conditions (16): Help
Congenital chromosomal disease; Autism spectrum disorder; Autosomal chromosomal disorder more...
Chromosomal regions/ Mitochondria (1): Help
Human genome
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Microarray; ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
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
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Skin
Who can order: Help
  • Health Care Provider
Test Order Code: Help
2003414, 2006267, 2005633, 3004273, 2002366
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
Test service: Help
Maternal cell contamination study (MCC)
    Comment: A maternal specimen is recommended for proper fetal test interpretation. Contact an ARUP genetic counselor to coordinate
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:
Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 16
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Microarray
Detection of homozygosity
Microarray
* 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
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: 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
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
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 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: Help
Not provided
Additional Information
Practice guidelines:
Consumer resources:

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. 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.