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cystic fibrosis (CFTR) genotyping
also see sweat chloride
Indications:
- cystic fibrosis
Specimen:
1) whole blood (ACD or EDTA)
2) nasal scrapings
3) tissue
4) store whole blood at room temperature or 4 degrees C
5) 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:
1) unusual ethnic background
2) unusual clinical phenotype
Related
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)
Specific
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
General
genotyping (allele testing)
References
- Clinical Guide to Laboratory Tests, 3rd ed. Teitz ed.,
W.B. Saunders, 1995