Handbook of Genetic Counseling/Cystic Fibrosis Carrier Screening-1
Cystic Fibrosis Carrier Screening
Disease Characteristics
[edit | edit source]- 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
[edit | edit source]- 1/3300 live births - Caucasian
- 1/15300 - African American
- 1/32000- Asian
Carrier frequencies
[edit | edit source]- 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
[edit | edit source]- 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
[edit | edit source]- 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
[edit | edit source]The information in this outline was last updated in 2002.