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Testing for Genetic Disorders

Related Genetic Tests

Cystic Fibrosis

Includes a personalized report, a letter for your doctor, and toll-free support

Price: $260.00

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Pre-test & Post-test Consultation

Our genetic experts can counsel you before and after testing.

Price: $250 per hour

Call to schedule: 1-877-646-0222

CYSTIC FIBROSIS

Resources: Cystic Fibrosis

Cystic Fibrosis Resources

Cystic Fibrosis Foundation

This national organization also has local chapters. Their website provides information about the disease, treatment options, clinical trials, research, and public policy. It also has contact information for more than 115 CF care centers nationwide. These centers, located at major teaching and community hospitals, offer comprehensive diagnosis and treatment for people with CF and their families.

www.cff.org

Canadian Cystic Fibrosis Foundation

This site has information for carriers, patients, families, and health care professionals. Downloadable brochures that cover more detailed topics, including "When a Parent Has CF: Talking with Children" and "Sexuality and CF: Information for Adolescents." It also has numerous personal stories, which offer insight into various aspects of living with cystic fibrosis. In English and French.

www.ccff.ca

Cystic-L Listserv

CYSTIC-L is a free email service dedicated to the exchange of information and support specific to cystic fibrosis. This listserv shares emotional support, personal stories and advice, and technical and medical information exchanges. Members include people with CF and those who share their lives: medical professionals, scientists, researchers, parents, spouses, siblings, friends and significant others.

www.cystic-l.org

The Cystic Fibrosis Center at Stanford

The Center publishes a thrice-yearly newsletter with information about living with and treating cystic fibrosis. Topics range from treatment options to traveling with cystic fibrosis. Center services include: research and clinical trials, pediatric and adult CF Programs, CF sweat chloride tests, and education. The CF Center is part of the Lucile Packard Children's Hospital.

http://cfcenter.stanford.edu/

Scientific Literature

Preconception and Prenatal Carrier Screening for Cystic Fibrosis. October 2001 Guidelines published by the American College of Obstetricians and Gynecologists & American College of Medical Genetics.

Brown and Schwind. 1999. Journal of Genetic Counseling. Vol. 8, No. 3.

Chillon M, Casals T, Mercier B, et al. Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens. June 1995. Vol. 332, No. 22:1425-80

Clain J, Lehmann-Che J, Edelman A, et al. 2005. Misprocessing of the CFTR protein leads to mild Cystic Fibrosis Phenotype. Hum Mut. Apr: 25(4): 360-71.

Davies JC, Griesenbach U, Alton E. Modifier Genes in Cystic Fibrosis. Pediatric Pulmonol. 2005 May;39(5);383-91

Fitzpatrick SB, Stokes DC, Rosenstein BJ, et al. 1984. Use of Oral Contraceptives in Women with Cystic Fibrosis. Chest. Dec; 86(6): 863-7.

Gan, Veeze, Van den Ouweland, et al. 1995. A Cystic Fibrosis Mutation Associated with Mild Lung Disease. New England Journal of Medicine. July 333(2): 95-99.

Geddes DM, Cystic Fibrosis and Pregnancy. 1992. J R Soc Med. 85 suppl 19: 36-37.

Gene Reviews. CFTR-Related Disorders. www.genetests.org

Handyside A, Lesko J, Tarin J, et al. 1992. Birth of a Normal Girl after In Vitro Fertilization and Preimplantation Diagnosis Testing for Cystic Fibrosis. New England Journal of Medicine. Vol 327, No. 13:905-9

JAMA Patient Page. 2000. JAMA. 284: 1884.

Kerem, E. and Kerem, B. Genotype-Phenotype Correlations in Cystic Fibrosis. Pediatric Pulmonology 1996. 22: 387-395.

Langfelder-Schwind E, Kloza E, Sugarman E, et al. 2005. Cystic Fibrosis Prenatal Screening in Genetic Counseling Practice: Recommendations of the NSGC. Journal of Genetic Counseling, 14(1): 1-15.

McCarthy and Harris. The CFTR Gene and Regulation of Its Expression. Pediatric Pulmonology. pp1-8, 2005 Wiley-Liss, Inc.