GTR Test Accession:
Help
GTR000568370.3
CAP
Last updated in GTR:
2020-08-06
View version history
GTR000568370.3,
last updated:
2020-08-06
GTR000568370.2,
last updated:
2019-08-16
GTR000568370.1,
registered in GTR:
2019-08-14
Last annual review date for the lab: 2024-07-31
LinkOut
At a Glance
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
Test short name:
Help
aCGH-SNP
Specimen Source:
Help
- Peripheral (whole) blood
Who can order: Help
- Licensed Physician
Test Order Code:
Help
2516
Lab contact:
Help
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]
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.
Decline to answer.
Will the lab re-contact the ordering physician if variant interpretation changes?
Help
Decline to answer.
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
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
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
Reviews:
Clinical resources:
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.