Cystic Fibrosis Complete Rare Variant Analysis, Entire Gene Analysis

Synonyms

• CFCOM
• CYSTIC FIBROSIS CFTR FULL GENE ANALYSIS
• CYSTIC FIBROSIS GENE TEST
• LAB542
• TESTING

Cerner Name

Cystic Fibrosis Full Gene Analysis Plus DEL/DUP

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 Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Specimen Volume

3 mL whole blood (2 mL min)

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 Laboratories

Mayo Medical Laboratories (Test Code CFTRN)

CPT

81223

PDM

5922480

Results

Result Interpretation

Forms