Chromosome DEB Assay for Fanconi anemia, Prenatal
GTR Test Accession: Help GTR000504352.5
Last updated in GTR: 2021-01-12
Last annual review date for the lab: 2024-01-08 LinkOut
At a Glance
Fanconi anemia complementation group D1; Fanconi anemia complementation group A; Fanconi anemia complementation group B; ...
11p14.3; 13q13.1; 14q21.2; 15q26.1; 16p12.2; ...
Cytogenetics - Chromosome breakage studies: Chromosome breakage studies
Individuals considered at risk for a child with Fanconi Anemia.
Not provided
Not provided
Ordering Information
Offered by: Help
Quest Diagnostics Nichols Institute Chantilly
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Specimen Source: Help
Test Order Code: Help
Lab contact: Help
Meredith Masiello, 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
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
Recommended fields not provided:
Conditions Help
Total conditions: 15
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 15
Chromosomal region/Mitochondrion Associated condition
Total methods: 1
Method Category Help
Test method Help
Instrument *
Chromosome breakage studies
Chromosome breakage studies
* Instrument: Not provided
Clinical Information
Test purpose: Help
Target population: Help
Individuals considered at risk for a child with Fanconi Anemia.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical validity and specificity >98%; Diagnostic test for affected fetuses and individuals; not gene-specific
View citations (1)
  • Auerbach AD. Fanconi anemia and its diagnosis. Mutat Res. 2009;668(1-2):4-10. doi:10.1016/j.mrfmmm.2009.01.013. Epub 2009 Feb 28. PMID: 19622403.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help

PT Provider: Help
Internal Program (semi annual)
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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