Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog

Test Name: Sunquest Test Code Epic Procedure Code Or ID CPT Code:  

CYSTIC FIBROSIS SCREEN

ORDERING INFORMATION:
Sunquest Test Code:
CFSCRE      Geisinger Epic Procedure Code: CFSCRE         Geisinger Epic ID: 54553

SPECIMEN COLLECTION
Specimen type:
Whole blood
Preferred collection container:
Alternate Collection Container:
6 mL pink-top K2 EDTA tube
Specimen required:
3 mL lavender EDTA whole blood; minimum 0.5 mL. NO SHARED SPECIMENS WITH OTHER LABORATORY DEPARTMENTS. May be combined with other Molecular Diagnositic tests. For genetic testing, original tube required.
Special notes:
  1. Mix well.
  2. Isolated/extracted nucleic acids are acceptable only from CLIA-certified laboratories or a laboratory meeting equivalent requirements as determined by CAP and/or CMS.

SPECIMEN PROCESSING
Specimen processing instructions:
Do not centrifuge. 
Transport temperature:
Refrigerated: 2-8°C.
Specimen stability:
Refrigerated (2-8°C): 4 weeks.
Rejection criteria:
Specimen collected in heparin (green-top) tube will be rejected. Frozen whole blood specimens will be rejected. Stability limits exceeded. Shared or comingled specimens.

TEST DETAILS
Reference interval:
Negative.
Additional information:
For genetic testing, original tube required.
CPT code(s):
81220
Note: The billing party has sole responsibility for CPT coding.  Any questions regarding coding should be directed to the payer being billed.  The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.
Test includes:
ACMG recommended 23 mutation panel: DeltaF508, G542X, R553X, R117H, 711+1G>T, R347P, DeltaI507, 1717-1G>A, R560T, A455E, 2789+5G>A, W1282X, R334W, N1303K, G85E, 3849+10kbC>T, 1898+1G>A, R1162X, 2184delA, 3120+1G>A, G551D, 621+1G>T, and 3659delC.
Methodology:
Multiplex polymerase chain reaction (PCR)
GenMark Dx eSensor Technology
Synonyms:
CF PCR, cystic fibrosis, cystic fibrosis PCR, cystic fibrosis mutation, CF mutation, CF genotype, cystic fibrosis genotype, CF DNA, cystic fibrosis DNA, CFTR, cystic fibrosis transmembrane conductance.
Clinical significance:
This test is used for cystic fibrosis (CF) carrier screening in adults of reproductive age, newborn CF screening, and for confirmatory diagnosis of CF in newborns and children.
Doctoral Director(s:)
Yi Ding MD, PhD    
Review Date: 09/05/2018

Performing Locations

Geisinger Medical Center

Performing laboratory: Molecular Diagnostics
Technical Lead: Lisa Scicchitano
Frequency: Weekly
Performed stat? No
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*GMC - Geisinger Medical Center; GWV - Geisinger Wyoming Valley Medical Center; GSACH - Geisinger Shamokin Area Community Hospital; GBH - Geisinger Bloomsburg Hospital;
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