GTR Test Accession:
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GTR000556723.1
Registered in GTR:
2017-08-19
View version history
GTR000556723.1,
registered in GTR:
2017-08-19
Last annual review date for the lab: 2024-09-30
LinkOut
At a Glance
Test purpose:
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Diagnosis
Conditions (90):
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Chromosome 15q13.3 microdeletion syndrome;
15q11q13 microduplication syndrome;
22q partial monosomy
more...
Methods (1):
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Molecular Genetics - Deletion/duplication analysis: Comparative Genomic Hybridization
Target population: Help
Universal
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Test short name:
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aCGH study for cryptic quantitative genomic imbalances
Specimen Source:
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- Amniotic fluid
- Cell culture
- Chorionic villi
- Cord blood
- Fetal blood
- Fresh tissue
- Isolated DNA
- Peripheral (whole) blood
- Product of conception (POC)
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- In-State Patients
- Licensed Physician
- Out-of-State Patients
- Physician Assistant
- Public Health Mandate
Contact Policy:
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Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order:
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Kindly contact us for a prior collection of any specimen or you can visit our website.
Order URL
Order URL
Test service:
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Genetic counseling
Result interpretation
Result interpretation
Test additional service:
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Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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Based on applicable state law
Pre-test genetic counseling required:
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Yes
Post-test genetic counseling required:
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Yes
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 90
Condition/Phenotype | Identifier |
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Test Targets
Chromosomal regions/Mitochondria
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Total chromosomal regions/mitochondria: 24
Chromosomal region/Mitochondrion | Associated condition |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Comparative Genomic Hybridization
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Clinical utility:
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Target population:
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Universal
View citations (1)
- Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, van der Vliet W, Huys EH, van Rijk A, Smeets D, van Ravenswaaij-Arts CM, Knoers NV, van der Burgt I, de Jong PJ, Brunner HG, van Kessel AG, Schoenmakers EF, Veltman JA. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet. 2003;73(6):1261-70. doi:10.1086/379977. Epub 2003 Nov 18. PMID: 14628292.
Recommended fields not provided:
Clinical validity,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Platform:
Affymetrix CytoScan HD Array
Test Confirmation:
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Q-PCR
Availability:
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Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Analytical Validity:
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The aCGH study is 99% sensitive and specific for deletion and duplication analysis.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
Not Applicable
Additional Information
Suggested reading:
Clinical 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.