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Cystic Fibrosis Expanded Mutation Analysis – CFplus

Important Note

CFplus is an expanded mutation panel that tests for 97 mutations and provides high detection rates for the pan-ethnic US population.  

Department

Integrated Genetics (Genzyme)

Specimen Type

Blood

Method

DNA is isolated from the sample and tested for the 97 CF mutations listed. Regions of the CFTR gene are amplified enzymatically and subjected to a solution-phase multiplex allele-specific primer extension with subsequent hybridization to a bead array and fluorescence detection. Some mutations are then specifically identified by bidirectional dideoxysequencing.

Discriminates between  p.F508del and the following polymorphisms: F508C, I506V, and I507V p.F508C, p.I506V, and p.I507V.

Container

Lavender-top (EDTA) tube

Yellow-top (ACD-A) tube

Standard Volume

4 mL

Minimum Volume

4 mL

Pediatric Volume

2 mL

Ship Temperature

Room Temp

Stability Refrigerated

n/a

Stability Room Temp

Refer to Integrated Genetics website.

Stability Frozen

n/a

CPT Codes

81220