Constitutional Chromosomal Microarray Analysis
GTR Test Accession: Help GTR000531722.7
Last updated in GTR: 2023-01-30
Last annual review date for the lab: 2023-05-19 Past due LinkOut
At a Glance
Diagnosis; Prognostic
Multiple congenital anomalies; 4p partial monosomy syndrome; 5p partial monosomy syndrome; ...
Molecular Genetics - Deletion/duplication analysis: Microarray
CMA is typically the best diagnostic genetic test to begin …
Not provided
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Ordering Information
Offered by: Help
Clinical Genomics Laboratory
View lab's website
View lab's test page
Test short name: Help
Constitutional CMA
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Saliva
  • Skin
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
CPT codes: Help
**AMA CPT codes notice
Lab contact: Help
Whitney Neufeld-Kaiser, MS, Certified Genetic counselor, CGC, Genetic Counselor
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
Test kits with return shipping are available as needed. Email or call 206-598-8684 to request kits. Please see the lab's website for complete information about sample types, ordering and shipping requirements, and test requisition.
Order URL
Informed consent required: Help
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
Recommended fields not provided:
Conditions Help
Total conditions: 26
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Total methods: 1
Method Category Help
Test method Help
Deletion/duplication analysis
Illumina iScan
Clinical Information
Test purpose: Help
Diagnosis; Prognostic
Target population: Help
CMA is typically the best diagnostic genetic test to begin with when (1) fetal abnormalities are seen by ultrasound; (2) there is an intrauterine fetal demise or stillbirth; (3) a person has an autism spectrum disorder. It is also the appropriate follow-up test when a large copy number variant has … View more
View citations (2)
  • ACMG Practice Guideline, 2021
  • ACOG Committee Opinion 682
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
CNVs are interpreted using ClinGen, DGV, gnomAD, ClinVar, DECIPHER, OMIM, published medical literature. Classification and reporting is based on current ACMGG Guidelines (Riggs et al, 2019;

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

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. The ordering provider is welcome to contact lab to request an updated interpretation of any CNVs detected previously.
Sample reports:
Sample Negative Report Help
Sample Negative Report

Sample Positive Report Help
Sample Positive Report

Sample VUS Report Help
Sample VUS Report
Recommended fields not provided:
Technical Information
Test Platform:
Illumina Infinium CytoSNP-850K BeadChip
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
As required by ACMG, 30 known normal and abnormal samples were used for assay validation. The microarray identified 100% of the abnormalities.
Assay limitations: Help
This microarray will detect aneuploidy as well as copy number gains (duplications or amplifications), copy number losses (deletions), and regions of copy number neutral absence or loss of heterozygosity for the loci represented on the microarray. Analysis in our laboratory is limited to detecting copy number changes (deletions and duplications) … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

Description of PT method: Help
As part of CAP accreditation, proficiency testing is performed two times per year. The laboratory is provided with approximately 4 unknown specimens for testing each year, and results are returned to CAP for evaluation.
Software used to interpret novel variations Help
DGV, gnomAD, ClinGen, ClinVar, DECIPHER databases and published medical literature

Laboratory's policy on reporting novel variations Help
Variants of uncertain significance can be reported or withheld, based on ordering provider preference.
Recommended fields not provided:
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.