Assays
Most popular assays used in the detection of cystic fibrosis:
- Reverse Dot Blot (RDB)
- Amplification Refractory Mutation System (ARMS)
- Oligonucleotide Ligation Assay (OLA)
Some articles related to detection assays for Cystic Fibrosis:
Technology platforms for molecular diagnosis of cystic fibrosis
Eshaque B, Dixon B, Biotechnol Adv., 2006 24(1), 86-93
Detection of CFTR mutations using ARMS and low-density microarrays
Eaker S et al., Biosensors and Bioelectronics, 2005, 21(6), 933-939
Direct visualization of Cystic Fibrosis transmembrane regulator mutations in the clinical laboratory setting
Strom C M et al., Clinical Chemistry, 2004, 50(5), 836-845
Genetic tests can be used for
Carrier screening
A carrier is a person who can pass an inherited (genetic) disease on to his or her children but may not have the disease. The purpose of CF carrier testing is to see if a couple is at increased risk for giving birth to a child who will have CF. Cystic fibrosis carrier testing is a laboratory test done on a sample of blood or saliva. If testing shows that a couple is at high risk, additional testing can be done on the developing baby to see whether or not it will have CF.
Diagnostic testing
This aids with a diagnosis and is used to confirm or rule out a suspected genetic condition in a person having symptoms. Gene testing sometimes can be cheaper and more effective than conventional tests; for other conditions, it may not be the best way to make a diagnosis. A "sweat" test is often more accurate at diagnosing cystic fibrosis than a genetic test is. Testing the individual may have implications for family members if an altered gene is found.
Prenatal testing
This is performed on a fetus during pregnancy to determine whether it may have a genetic condition. Women usually undergo prenatal testing when they are at risk for having a baby with a genetic condition. The risk could be due to family history, ethnicity, age of the mother, or an abnormality found on fetal ultrasound. Prenatal tests include amniocentesis, chorionic villus sampling, or biopsies. If an abnormality is found, prenatal diagnosis with genetic testing may be offered, but usually the specific gene mutation must first be found in an affected relative or carrier parent.
Preimplantation genetic diagnosis
A relatively new technology, PGD can be done together with in-vitro fertilization (IVF) on early embryos to decrease the chance that the embryo implanted in the uterus will have a serious genetic condition. Usually, it is for couples with a high chance of having a child with a serious genetic disorder. It provides an alternative to prenatal diagnosis and the termination of unwanted pregnancies. Couples can also choose the sex of their embryo to avoid genetic conditions linked to the X (male)-chromosome. However, PGD is only performed at a few centers, is only available for a limited number of disorders, is very expensive, and the cost is usually not covered by insurance.
Last changed: 2011-11-16
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