Cystic Fibrosis Screen

Overview

  • EPIC Code:
  • LAB576
  • Soft Test Code:
  • CYSF
  • Send Out Test Code:
  • 10458
Alternate Names
  • CF Carrier Screen
  • CF Mutation Screen
  • CF Screen
  • CFTR Screen
  • Cystic Fibrosis
  • Cystic Fibrosis Carrier Screen
  • Cystic Fibrosis Diagnostic Study
  • Cystic Fibrosis Mutation Screen
Clinical Significance

General screen for carrier status and assessment of CF risk.
This test will identify approximately 90% of Cystic Fibrosis (CF) mutations in the Caucasian population, and 97% in the Ashkenazi Jewish population.


Specimen Collection & Preparation

Client Notes:

*Send copy of insurance cards and proper paperwork with specimen


Specimen Requirements

4.0 mL Whole Blood in a Lavender Top Tube - EDTA


Alternate Specimen

5.0 mL(3.0mL) Whole Blood in a Yellow Top Tube - ACD (Solution A or B)
or 
5.0 mL (3.0mL) Whole Blood in a Green Top Tube - Na Heparin 
or
5.0 mL (3.0mL) Whole Blood in a Navy Blue Top Tube - EDTA 
or
5.0 mL (3.0mL) Whole Blood in a Green Top Tube - Li Heparin 
or 
2.0 mL Saliva collected in an Oragene Self-Collection Kit (would need to request from Quest)
Saliva: Rinse mouth, spit into collection tube until liquid phase reaches mark, seal with cap, replace funnel with small cap. See package insert. Store and ship room temperature. Do not freeze. The Oragene reagent is released from the cap. The reagent stabilizes/releases DNA from saliva.
For Genetic Testing, original tube required. Aliquots for other testing from original tube are permitted, if performed without cross contamination of samples and using sterile techniques. Rinse mouth prior to spitting.
Saliva
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Call lab





TransportAndStorage

8 days Ambient (preferred)
8 days Refrigerated

Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.


Collection Instructions

Order must indicate the ethnicity of the patient


Minimum Volume

3.0 mL Whole Blood


Neonatal Volumne

Clinical Interpretation

Reference Range:

Refer to Interpretive Results


Test Comments:

Limitations: 
Approximately 18% of affected Caucasian individuals have only one detectable mutation and 1% have no detectable mutations when using this screen.


Methodology:
  • Oligonucleotide Ligation Assay
  • Polymerase Chain Reaction

Clinical Significance

General screen for carrier status and assessment of CF risk.
This test will identify approximately 90% of Cystic Fibrosis (CF) mutations in the Caucasian population, and 97% in the Ashkenazi Jewish population.


Production Schedule

Sites Performed
  • Quest - Chantilly
Days Performed
Sunday
Monday
Tuesday
Wednesday
Thursday
Friday
Saturday
Departments
  • Sendouts - Clinical
Turn Around Time

7 to 10 days


Coding & Compliance

CDM

00913009


CPT Coding

81220