Cystic Fibrosis Full Gene Analysis Plus DEL/DUP CFCOMP

Synonyms
Allscripts (AEHR) Order Name	Cystic Fibrosis CFTR Full Gene Analysis
Sunrise Clinical Manager (SCM) Order Name	Not Orderable
EPIC Order Name	Cystic Fibrosis Complete Rare Variant Analysis, Entire Gene Analysis
Clinical Info	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 .
Days Performed	TAT: 29-43 Days
Performing Laboratory	Mayo Medical Laboratories (Test Code CFTRN)
CPT	81223
PDM	5922480
Result Interpretation See Report
Forms