Cystic Fibrosis Screen
With over 99% accuracy, the NxGen MDx screen for cystic fibrosis is one of the world’s most accurate tests for detecting genetic markers that may affect pregnancy and future child development.
What Is It?
Cystic fibrosis (CF) is the most common fatal genetic disease in North America. It affects the lungs most critically, causing the body to produce abnormally thick mucus that can lead to life-threatening lung infections, digestion problems, diarrhea, poor growth, and infertility. The average life span for individuals with CF is 37 years. To learn more about cystic fibrosis, download the brochure.
Who Should Take It?
• All individuals of childbearing age, regardless of gender
• Couples or individuals considering in vitro fertilization
• Pregnant women
When testing, our laboratory analyzes all of the coding DNA in a gene to determine if any disease-causing pathogenic variants are present. By sequencing all of the coding DNA in a gene, instead of just a portion, we are able to offer the most accurate genetic testing available, regardless of your ethnicity. The majority of laboratories are only sequencing a portion of the gene, leaving room for error with missed pathogenic variants, especially when testing a variety of ethnicities. By sequencing the entire gene, NxGen MDx testing eliminates the doubt in a negative result and drastically reduces the residual risk, regardless of ethnicity.
- Abeliovich et al. (1992). Screening for five mutations detects 97% of cystic fibrosis chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet, 51:951-956.
- American College of Obstetricians and Gynecologists, Committee on Genetics (2011). Committee Opinion Number 486. Update on Carrier Screening for Cystic Fibrosis. Obstetrics and Gynecology, 117(4):1028-1031.
- Augarten et al. (2008). The changing face of the exocrine pancreas in cystic fibrosis: the correlation between pancreatic status, pancreatitis and cystic fibrosis genotype. Eur J Gastro Hepatology, 20(3):164-168.
- Braekeleer and Ferec (1996). Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. Mol Hum Reprod, 2(9):669-677.
- Bobadilla et al. (2002). Cystic Fibrosis: A Worldwide Analysis of CFTR Mutations–Correlation with Incidence Data and Application to Screening. Human Mutation, 19:575-606.
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- Centers for Disease Control and Prevention. Population-Based Prenatal Screening for Cystic Fibrosis via Carrier Testing. http://www.cdc.gov/genomics/gtesting/file/print/FBR/introduction.pdf.
- Cystic Fibrosis Centre at the Hospital for Sick Children in Toronto. Cystic Fibrosis mutations database. http://www.genet.sickkids.on.ca/cftr.
- Estivill et al. (1997). Geographic Distribution and Regional Origin of 272 Cystic Fibrosis Mutations in European Populations. Human Mutation, 10:135-154.
- Ferec et al. (1995). Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses. Human Genetics, 96:542-548.
- Feuillet-Fieux et al. (2004). Novel CFTR mutations in black cystic fibrosis patients. Clin Genetics, 65(4):284-287.
- Grebe et al. (1994). Genetic Analysis of Hispanic Individuals with Cystic Fibrosis. Am J Hum Genet, 54:443-446.
- Goetzinger and Cahill (2010). An Update on Cystic Fibrosis Screening. Clin Lab Med, 30:533-543.
- Grody et al. (2001). Laboratory standards and guidelines for population-based cystic fibrosis carrier screening, ACMG policy statement. Genet Med, 3(2):149-154.
- Heim et al. (2001). Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel. Genet Med, 3(3):168-176.
- Kazazian, Haig (1994). Population Variation of Common Cystic Fibrosis Mutations. Human Genetics, 4:167-177.
- Leeds Method of Management. (2008). The genetics of Cystic Fibrosis [online]. Leeds Regional Adult and Paediatric Cystic Fibrosis Units, St James’s University Hospital, Leeds, UK. Available from http://www.cysticfibrosismedicine.com.
- Macek et al. (1997). Identification of Common Cystic Fibrosis Mutations in African-Americans with Cystic Fibrosis Increases the Detection Rate to 75%. Am J Hum Genet, 60:1122-1127.
- Monaghan et al (2004). Preconception and prenatal cystic fibrosis carrier screening of African American reveals unanticipated frequencies for specific mutations. Genet Med 6(3):141-144.
- Morea et al. (2005). Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility. Mol Hum Reprod, 8:607-614.
- Palomaki et al. (2002). Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians. Genet Med, 4(2):90-94.
- Palomaki et al. (2004). Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population. Genet Med, 6(5):405-414.
- Perez et al. (2007). CFTR gene analysis in Latin American CF patients: Heterogeneous origin and distribution of mutations across the continent. J Cystic Fibrosis, 6:194-208.
- Rohlfs et al. (2011). Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population. Clin Chem, 57(6):841-848.
- Schwartz et al. (1996). Cystic Fibrosis Mutation Analysis: Report from 22 UK Regional Genetics Laboratories. Human Mutation, 3:326-333.
- Scotet et al. (2000). Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years’ experience and impact on prenatal diagnosis. Lancet, 356:789-794.
- Sugarman et al. (2004). CFTR mutation distribution among U.S. Hispanic and African American individuals: Evaluation in CF patient and carrier screening populations. Genet Med, 6(5):392-399.
- Watson et al. (2004). Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med, 6(5):387-391.
- World Health Organization (WHO) (2002). The Molecular Genetic Epidemiology of Cystic Fibrosis. Report of a joint meeting of WHO/ECFTN/ICF(M)A/ECFS.
Additional Cystic Fibrosis References: Available upon request
Talk to a Genetic Counselor
As a NxGen client, you'll have access to personal genetic counselors who can help explain the results of your screens and provide insight on how to move forward. To schedule a personal conference to discuss your screen results, call (855) 776-9436. or click the link below.Discuss Your Screening Results