Indications For Cystic Fibrosis Symptoms
Cystic fibrosis (CF) is the most common autosomal recessive genetic disease with a disease frequency of approximately 1 in 2,500 newborns. This disease is caused by mutations in two copies of the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR).
- Carrier screening of all pregnant women
- Carrier identification in persons with a family history of CF
- Confirmation of diagnosis in affected individuals
- Sperm & egg donors
Peripheral blood sample collected on a blood spot collection card or in a purple top tube (EDTA) labeled with patient’s name and date of birth. A completed test requisition form must be included with every sample. A transport kit is available upon request.
1 blood spot card or 5cc of blood collected in a purple top tube (EDTA)
Blood spot card or purple top tube (EDTA)
Cystic Fibrosis laboratory testing is performed by Polymerase Chain Reaction (PCR) amplification of the CFTR gene coupled with an FDA approved assay targeting the 23 CFTR gene mutations recommended by ACOG/ACMG plus 37 additional mutations common in the ethnically diverse North American population
Room temperature (DO NOT refrigerate, freeze or centrifuge)
Causes for Rejection
Frozen specimen, clotted or hemolysed, inappropriate container
For more information on Cystic Fibrosis Testing and Treatment, Please contact CytoGenX.