The new test is used to simultaneously detect 25 of the most common mutations that cause cystic fibrosis, thereby giving early diagnosis and improving the long-term effects of cystic fibrosis. The applications of the test include in newborn screening, carrier and prenatal testing.
Early diagnosis of cystic fibrosis is vital. This genetic disease damages vital organs and patients have a median survival age of 30 years. Currently, diagnosis is through newborn screening, although these can lead to false positive and false positive results. Astra Biotech GmbH’s new test is more reliable, designed to simultaneously test for 25 mutations in the CFTR gene using recent clinical genetic data and microchip and microarray technology. The test is rapid, has high specificity and sensitivity.