Useful for carrier screening in individuals of Ashkenazi Jewish ancestry for:
FANCC-related Fanconi anemia
Niemann-Pick disease types A and B
Send specimen in original tubes
Preferred: Yellow Top (ACD)
Acceptable: Any anticoagulant
Unacceptable Specimen Conditions
All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.
This assay will not detect all of the mutations that cause these 8 diseases. Therefore, the absence of a detectable mutation does not rule out the possibility that an individual is a carrier of or affected with 1 or more of the listed diseases.
Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.
Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.
In rare cases, DNA alterations of undetermined significance may be identified.
A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.