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Comparative genomic hybridization (aCGH-SNP)
Clinical Genetic Test
Help
offered by
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
GTR Test Accession: Help GTR000568370.3
CAP
NERVOUS SYSTEMPSYCHIATRIC
Last updated in GTR: 2020-08-06
View version history
Last annual review date for the lab: 2023-07-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (4): Help
Congenital chromosomal disease; Autism spectrum disorder; Developmental delay; ...
Chromosomal regions/ Mitochondria (1): Help
Human genome
Methods (3): Help
Molecular Genetics - Deletion/duplication analysis: Comparative Genomic Hybridization; ...
Target population: Help
Not provided
Clinical validity: Help
The microarray used allows to detect in more than 99% …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Test short name: Help
aCGH-SNP
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Test Order Code: Help
2516
Lab contact: Help
Marcela Lagos, MD, Lab Director
mlagos@med.puc.cl
+56 223548515
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.
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
How to Order, Test strategy, 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: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Comparative Genomic Hybridization
Detection of homozygosity
Comparative Genomic Hybridization
Uniparental disomy study (UPD)
Comparative Genomic Hybridization
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
The microarray used allows to detect in more than 99% of cases alterations of size >200 kb and loss of heterozygosity >10 Mb.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Application of array-based comparative genomic hybridization to clinical diagnostics. Bejjani BA, et al. J Mol Diagn. 2006;8(5):528-33. doi:10.2353/jmoldx.2006.060029. PMID: 17065418.

Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). 2020. [PMID: 31690835]

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
Decline to answer.
Recommended fields not provided:
Target population, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Platform:
Agilent SurePrint G3 Human CGH Microarray 4x180K
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
For validation, 20 cases were analyzed, including patients with described phenotype, CAP samples and healthy cases. 100% of the results were consistent. With this method it is possible to detect loss and gain of genomic material of >25 Kb. This laboratory reports alterations of size >200 Kb, uniparental dysomies and … 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, 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

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.