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Fanconi Anemia Panel
Clinical Genetic Test
Help
offered by
Knight Diagnostic Laboratories - Molecular Diagnostic Center
View lab's test page
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GTR Test Accession: Help GTR000508804.2
INHERITED DISEASEIMMUNOLOGYHEMATOLOGY ... View more
Last updated in GTR: 2014-10-22
View version history
Last annual review date for the lab: 2024-10-24 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Screening
Conditions (16): Help
Fanconi anemia; Fanconi anemia complementation group A; Fanconi anemia complementation group B more...
Genes (15): Help
BRCA2 (13q13.1); BRIP1 (17q23.2); FANCA (16q24.3); FANCB (Xp22.2); FANCC (9q22.32) more...
Methods (1): Help
Molecular Genetics - Mutation scanning of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Knight Diagnostic Laboratories - Molecular Diagnostic Center
View lab's website
View lab's test page
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
Test Order Code: Help
1460
View other test codes
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
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 16
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 15
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Screening
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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 Comments: Help
Next generation sequencing using Ion Torrent technology of the 15 FA-associated genes as well as 6 additional genes which may be associated with the FA phenotype.
Breakage analysis is still necessary to confirm the FA diagnosis.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The sensitivity is estimated at around 99%.
View citations (1)
  • Analytical validity of LDT is determined during validation of test following CLIA and CAP recommendations.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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