Expanded Cystic Fibrosis Panel CFPLUS

Synonyms

Allscripts (AEHR) Order Name

Cystic Fibrosis, Expanded Panel

Sunrise Clinical Manager (SCM) Order Name

Cystic Fibrosis Expanded Panel

EPIC Order Name

Expanded Cystic Fibrosis Panel

Clinical Info

Specimen Type

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube:  Lavender-top (EDTA) tube(s)
Specimen:  10 mL of EDTA whole blood (1 tube min)
Transport Temperature:  Refrigerated
Collection Instructions:
Note:  A signed “Consent Form” is required for processing.

Transport Instructions

Refrigerated

Specimen Stability

Methodology

Genotyping by Next Generation Sequencing.

Days Performed

Monday through Saturday

Performing Laboratory

BioReference Laboratories

CPT

81220
 
TAT :
7-10 days
 

PDM

5906098

Result Interpretation

Negative for all mutations analyzed
 
Expanded Cystic Fibrosis is a panel of 215 mutations reported to cause Cystic Fibrosis. This panel includes
the 23 mutations recommended for carrier screening by ACOG and ACMG (G85E, R117H,
621+1G>T, 711+1G>T, R334W, R347P, A455E, deltaI507, deltaF508, 1717-1G>A, G542X, G551D,
R553X, R560T, 1898+1G>A, 2184delA, 2789+5G>A, 3120+1G>A, R1162X, 3659delC, 3849+10kbC>T,
W1282X, N1303K). The remaining mutations on the panel have been reported to cause Cystic Fibrosis
frequently in the literature. The IVS8 polyT region (5T, 7T, 9T) is only examined as a reflex to a R117H
positive result
 
 

Forms

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