cystic fibrosis (CFTR) genotyping

Introduction

also see sweat chloride

Indications

• cystic fibrosis

Specimen

• whole blood (ACD or EDTA)
• nasal scrapings
• tissue
• store whole blood at room temperature or 4 degrees C
• store tissue frozen at -20 degrees C if nucleic acid cannot be immediately extracted

Notes

Common mutations can be used to detect 75-80% of alleles

Rare mutations associated with:

• unusual ethnic background
• unusual clinical phenotype

More general terms

• genotyping (allele testing)

More specific terms

• CFTR gene p.R117H+5T
• CFTR gene allele 1
• CFTR gene allele 2
• CFTR gene p.IVS8 PolyT
• CFTR genotyping in amniotic fluid
• CFTR genotyping in blood

Additional terms

• cystic fibrosis (CF, mucoviscidosis)
• cystic fibrosis transmembrane conductance regulator; CFTR; cAMP-dependent chloride channel; ATP-binding cassette transporter sub-family C member 7 (CFTR ABCC7)

Patient information

CF Gene Mutation Testing patient information