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Chromosome DEB Assay for Fanconi anemia, Prenatal
Clinical Genetic Test
Help
offered by
Quest Diagnostics Nichols Institute Chantilly
View lab's test page
LinkOut
GTR Test Accession: Help GTR000504352.5
IMMUNOLOGYINHERITED DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2021-01-12
View version history
Last annual review date for the lab: 2024-01-08 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (15): Help
Fanconi anemia complementation group D1; Fanconi anemia complementation group A; Fanconi anemia complementation group B; ...
Chromosomal regions/ Mitochondria (15): Help
11p14.3; 13q13.1; 14q21.2; 15q26.1; 16p12.2; ...
Methods (1): Help
Cytogenetics - Chromosome breakage studies: Chromosome breakage studies
Target population: Help
Individuals considered at risk for a child with Fanconi Anemia.
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Quest Diagnostics Nichols Institute Chantilly
View lab's website
View lab's test page
Specimen Source: Help
Test Order Code: Help
17455
Lab contact: Help
Meredith Masiello, MS, Certified Genetic counselor, CGC, Genetic Counselor
866-GENEINFO
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
Order URL
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test strategy, Test development
Conditions Help
Total conditions: 15
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 15
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Chromosome breakage studies
Chromosome breakage studies
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Individuals considered at risk for a child with Fanconi Anemia.
Recommended fields not provided:
Clinical validity, Clinical utility, 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
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
Yes

Method used for proficiency testing: Help
Intra-Laboratory

PT Provider: Help
Internal Program (semi annual)
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, 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.