Handbook of Genetic Counseling/Cystic Fibrosis Carrier Screening-1

Cystic Fibrosis Carrier Screening Disease Characteristics Autosomal recessive (use visual aide to describe) Build up of mucus in lungs and pancreas Failure to thrive Diarrhea Pneumonia Small intestine obstruction Pulmonary disease Pancreatic disease Male infertility Survival rate= aprox. average of 35 years Cognitive function is typically not impaired Incidence rates 1/3300 live births - Caucasian 1/15300 - African American 1/32000- Asian Carrier frequencies 1/26 in the Ashkenazi Jewish Population 1/25 N. and S. European 1/46 Hispanic 1/60 African American 1/90 Asian American Who should be tested Individuals with a family history and their partners Couples planning pregnancy from the high risk ethnic backgrounds Gamete donors Spouses of a known carrier NIH recommended in April 1999 that all pregnant couples get offered this test and all planning pregnancies Types of testing DNA - PCR using DF508 and 7 other mutations (use visual aide to describe) Done by a multiple of centers $235.00 Turnaround time is 7-10 days Carrier test detection rate 80-90% (depends on center) Blood sample 10-15cc lavender EDTA DNA chip - 86 mutations Done by Genzyme (1-800-848-4436): http://www.genzymegenetics.com/Our-Services/Reproductive-Testing/cf-plus.aspx 7-14 days turnaround $235.00 Carrier Test Detection Rates 90% for N. Europeans 70% for S. Europeans 97% for Ashkenazi Jewish 75% for African American Blood samples 20cc for adults 5-7cc for children yellow-top ACD-A lavender top EDTA Linkage - extremely rare mutations in a family Notes The information in this outline was last updated in 2002.