Fanconi Anemia
Genetic testing for Fanconi Anemia involves two different methods: Chromosomal Breakage (CB) studies and Molecular genetic testing.
CB studies can diagnose the condition but are unable to demonstrate the genetic cause. Molecular genetic testing to determine genetic cause is complex, as different types are caused by mutations in different genes.
This testing is for medical, clinical purposes.
This testing is only available through offline genetic testing providers if indicated by further evaluation and consultation with a trained genetic professional. Use the zip code search box to find a trained genetic professional in your area.
Fanconi Anemia (Group C)
Genetic testing for Fanconi anemia (Group C) looks for well documented mutations in the gene causing the condition. These mutations are primarily found in people of Ashkenazi Jewish ancestry. As such, this testing may not be useful to people of different ethnic backgrounds and alternative genetic testing may be needed.
This testing is for medical, clinical purposes.
This testing is available online at the Direct to Consumer Genetic Testing providers listed below.
Some providers also offer this testing as part of a larger panel: Ashkenazi Jewish Panel.
This testing is also available through many offline genetic testing providers if indicated by further evaluation and consultation with a trained genetic professional. Use the zip code search box to find a trained genetic professional in your area.
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Fanconi Anemia - Selected Mutations (as part of Whole Genome Scan)
Fanconi anemia testing by whole genome scanning looks for selected
mutations in a gene associated the disorder. Of note, this testing does not detect all known disease-causing mutations. Depending on the
methodology used, whole genome scanning is typically not as accurate
as conventional molecular genetic testing methods.
As such, individuals who are pregnant, have a personal or family history of the
disorder, or have a spouse who is a known carrier, may be better
candidates for conventional molecular testing methods. Test results
should be discussed with a genetic professional.
This testing is available online through the Direct-to-Consumer Genetic Testing providers listed below. A consultation with a trained genetic professional may be useful.
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