CFTR (Cystic Fibrosis Transmembrane Conductance)
Congenital Bilateral Absence of the Vas deferens
Cystic Fibrosis Transmembrane Conductance Regulator
Cystic Fibrosis, Prenatal Diagnosis
Cystic Fibrosis Mutation Analysis, 106-Mutation Panel
Confirmation of a clinical diagnosis of cystic fibrosis
Risk refinement via carrier screening for individuals in the general population
Prenatal diagnosis or familial variant testing when the familial variants are included in the 106-variant panel listed in Clinical Information
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
All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.
Specimen preferred to arrive within 96 hours of collection.
1. Invert several times to mix blood.
2. Send specimen in original tube. Do not aliquot.
Patient Preparation: 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.
Due to the complexity
of prenatal testing, consultation with the laboratory is required for all
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
This assay will not detect all of the variants that cause cystic fibrosis. Therefore, the absence of a detectable variant does not rule out the possibility that an individual is a carrier of or affected with this disease.
Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in the interpretation of results may occur if information given is inaccurate or incomplete.
Rare alterations (ie, 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.
An interpretive report will be provided.