Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Confirmation of a clinical diagnosis of cystic fibrosis
Risk refinement via carrier screening for individuals in the general population
Prenatal diagnosis or familial mutation testing when the familial mutations are included in the 106-mutation panel listed above (if familial mutations are not included in the 106-mutation panel, order FMTT / Familial Mutation, Targeted Testing)
Risk refinement via carrier screening for individuals with a family history when familial mutations are not available
Identification of patients who may respond to CFTR potentiator therapy
106-Mutation panel includes the 23 mutations recommended by the American College of Medical Genetics (ACMG).
Test ID | Reporting Name | Available Separately | Always Performed |
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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/genetic test will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.
See Cystic Fibrosis Molecular Diagnostic Testing Algorithm in Special Instructions.
The multiplex polymerase chain reaction (PCR)-based assay utilizing the Agena Mass ARRAY platform is used to test for mutations associated with cystic fibrosis (106-mutation panel).