Follow-up testing to identify variants in individuals with a clinical diagnosis of cystic fibrosis (CF)
Identifying genetic variants in individuals with atypical presentations of CF (eg, congenital bilateral absence of the vas deferens or pancreatitis)
Identifying genetic variants in individuals where detection rates by targeted variant analysis are low or unknown for their ancestral background
Identifying patients who may respond to cystic fibrosis transmembrane conductance regulator (CFTR) potentiator therapy
Specimen Type
Blood
Container
Lavender Top Tube
Collection Instructions
Container/Tube: Lavender EDTA tube. Alternate ACD Yellow top Specimen: 3 mL whole blood (2 mL min) Transport Temperature: Room Temperature NOTE: All prenatal specimens must be accompanied by a maternal blood specimen / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen. This must be a different order number than the prenatal specimen. Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing
Transport Instructions
Room Temperature
Specimen Stability
4 days Room temp or Refrigerated
Methodology
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing .
