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Understanding the Importance of Cystic Fibrosis Carrier Screening
- The birth prevalence of CF in the United States is 1 in 3,700.
- The carrier frequence in North America is 1 in 25.
- CFTR is an autosomal recessive disorder. Parents who are carriers
of CFTR mutations have a 1 in 4 chance of having a child with
cystic fibrosis.
- Life expectancy of affected individuals is 30-40 years (mean
31.6 years).
- Chronic obstructive pulmonary disease with respiratory failure
is primary cause of death in >90% of CF cases.
Complete
Testing Service
Pacific Rim Pathology Medical Group offers a complete solution for
your Women's Health testing needs. Our well trained staff coupled
with Luminex's technology provides trusted testing practices and
results for CFTR carrier screening. Ask us about our complementary
Women's Health testing services.
Now offered by Pacific Rim Pathology Medical Group
- Our local experts are easy to reach and ready to serve you
- Fast turn-around times provided by our knowledgeable CLIA certified
molecular pathology laboratory
- We offer validated genotyping for each of the ACOG/ACMG recommended
23 mutations
Provide the Standard of Care
The AOCG/ACMG standards include recommendations for test reporting,
interpretation and genetic counseling.
- Interpretive reports are written by an ABMG-certified Clinical
Molecular Geneticist.
- Referrals are available for Genetic Counselors upon request.
Specimen Requirements
One 5ml EDTA tube, room temperature.
For more information please call Pacific Rim Pathology
Group Tel: (619) 295-0964
5325 Metro Street, Suite A
San Diego, CA 92110
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