Web: | mayocliniclabs.com |
---|---|
Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Carrier screening for Fanconi anemia in individuals of Ashkenazi Jewish ancestry
Prenatal diagnosis of Fanconi anemia in at-risk pregnancies
Confirmation of suspected clinical diagnosis of Fanconi anemia in individuals of Ashkenazi Jewish ancestry
Test ID | Reporting Name | Available Separately | Always Performed |
---|---|---|---|
CULFB | Fibroblast Culture for Genetic Test | Yes | No |
CULAF | Amniotic Fluid Culture/Genetic Test | Yes | No |
MATCC | Maternal Cell Contamination, B | Yes | No |
For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.
Polymerase Chain Reaction (PCR) analysis is used to test for the following mutations associated with Fanconi anemia: 322delG and IVS4(+4)A->T