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Chromosomal Microarray
Clinical Genetic Test
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offered by
UW Cytogenetic Services
View lab's test page
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GTR Test Accession: Help GTR000613391.1
CAP
INHERITED DISEASENERVOUS SYSTEMPSYCHIATRIC ... View more
Registered in GTR: 2024-09-30
View version history
Last annual review date for the lab: 2024-09-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (7): Help
Global developmental delay with or without impaired intellectual development; Autism spectrum disorder; Cardiac anomalies - developmental delay - facial dysmorphism syndrome more...
Chromosomal regions/ Mitochondria (1): Help
Human genome
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: SNP Detection
Target population: Help
Prenatal, Postnatal, Oncology
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
UW Cytogenetic Services
View lab's website
View lab's test page
Test short name: Help
CMA
Manufacturer's name: Help
Illumina
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Buccal swab
  • Chorionic villi
  • Cord blood
  • Dried blood spot (DBS) card
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Saliva
  • Skin
  • View specimen requirements
Who can order: Help
  • Health Care Provider
Test Order Code: Help
890
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
Specimens may be submitted along with paperwork (Constitutional studies form or Oncology studies form) found at our website or online Monday through Saturday.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Custom Balanced Chromosome Rearrangement Studies
    OrderCode: 803
Custom Deletion/Duplication Testing
Marker Chromosome Identification
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: 7
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
SNP Detection
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Prenatal, Postnatal, Oncology
View citations (1)
  • Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Miller DT, et al. Am J Hum Genet. 2010;86(5):749-64. doi:10.1016/j.ajhg.2010.04.006. PMID: 20466091.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Our laboratory follows the ACMG Standards and Guidelines for the interpretation of sequence variants.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. We will perform periodic reassessments of our data and their associated clinical calls. If new data is available that indicates a change in variant significance, the clinician may be recontacted to discuss clinical impact.
Recommended fields not provided:
Clinical validity, Clinical utility, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Platform:
Illumina Infinium HD HumanCytoSNP-12
Availability: Help
Tests performed
Entire test performed in-house
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Analytical Validity: Help
A within the limit of detection (20kb for loss, 50kb for gain) is 100%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
College of American Pathologists, CAP

CAP Testing Information Help
CAP/ACMG Constitutional Microarray; Cytogenomic microarray; CYCGH
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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.