Residual Risk Table
Estimated residual risks after tested negative using Blueprint Genetics Carrier Test
The table file below displays residual risks after a negative result for each of the genes and corresponding disorders and is not calculated separately for each tested individual. If a patient is reported to be a carrier of a disease, their residual risk equals “1” and this table does not apply for that disease.
Residual risk values were calculated based on published mutation or carrier frequencies for dominant and recessive disorders (e.g., Guo MH and Gregg AR, 2019) and estimated detection rates of Blueprint Genetics’ testing technologies. Detection rate is probability to detect disease-causing variants when accounting for sequence coverage, mapping quality and known mutation profile.
Residual Risk Table
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Residual Risk Table PDF
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