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Chromosome microarray with 5-cell chromosome analysis reflex, congenital
Clinical Genetic Test
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offered by
Sanford Medical Genetics Laboratory
View lab's test page
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GTR Test Accession: Help GTR000613422.1
CAP
NERVOUS SYSTEMPSYCHIATRIC
Registered in GTR: 2024-10-24
View version history
Last annual review date for the lab: 2024-10-24 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (4): Help
Global developmental delay; Autism spectrum disorder; Intellectual disability more...
Chromosomal regions/ Mitochondria (1): Help
Human genome
Methods (1): Help
Cytogenetics - Karyotyping: Microarray
Target population: Help
Individuals with unexplained developmental delay/intellectual disability, autism spectrum disorders, and/or …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Sanford Medical Genetics Laboratory
View lab's test page
Test short name: Help
CMA with 5-cell chromosome analysis reflex
Specimen Source: Help
  • Cord blood
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
Test Order Code: Help
LBOR0239
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

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
Call Sanford Client support at (605) 328-5502
Order URL
Informed consent required: Help
Based on applicable state law
Test strategy: Help
DNA copy number gains (duplications), losses (deletions), and regions of homozygosity (ROH) assessed and reported per ACMG guidelines. In the case of a normal result, chromosome analysis is performed
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 development
Conditions Help
Total conditions: 4
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 *
Karyotyping
Microarray
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Individuals with unexplained developmental delay/intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Variant classification will be reported following the ACMG recommendations (Riggs et al Genet Med. 2020 Feb;22(2):245-257).

Will the lab re-contact the ordering physician if variant interpretation changes? Help
.
Recommended fields not provided:
Clinical validity, Clinical utility, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Chromosomal microarray: Chromosomal microarray (CMA) of genomic DNA using the Illumina Infinium Global Diversity Array with Cytogenetics-8 v1.0 BeadChip. The array resolution is approximately 5kb for regions targeting 4885 dosage sensitive genes and the backbone resolution is 20kb. The copy number results are assessed in silico and analyzed using the … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Detection is limited to copy number losses of at least 6 kb in size containing a minimum of 15 consecutive probes and copy number gains greater than 50 kb containing a minimum of 40 consecutive probes. Mosaicism greater than 20% is generally detected by this array. Within this limit of … View more
Assay limitations: Help
This microarray will not detect balanced alterations (reciprocal translocations, Robertsonian translocations, inversions, or balanced insertions), point mutations, or insertions/deletions (indels) of regions not covered by the platform. It may not detect low-level of mosaicism (less than 20%) or marker chromosomes that only contain heterochromatin. High copy number gains are detected … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information
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.