Cystic Fibrosis Prenatal Screening &
Cystic Fibrosis Pre-conception Screening (CF)

Molecular Genetics Laboratory

Hologic Invader^® platform

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Specimen Required:

Cheek swab (buccal) or venous blood (purple-top tube) sample from the pregnant woman and her partner (the baby's father). See notes section below.

Send to MGL immediately by mail or courier.

Ship at ambient temperature in envelope provided or appropriate transport container.

Days Test Set Up:

Monday / Wednesday

Analytic Time:

1 week

CPT Code(s):

83891, 83900, 83901x17, 83908, 83892, 83896x5, 83903x40, 83912

CF Mutations Tested:

ΔF508, ΔI507, A455E, D1152H, E60X, G542X, G551D, G85E, N1303K, Q493X, R1162X, R117H, R334W, R347H, R347P, R553X, R560T, S549N, S549R(A>C), S549R(T>G), V520F, W1282X, Y1092X(C>A), Y1092X(C>G), Y122X, 394delTT, 621+1G>T, 711+1G>T, 1078delT, 1717-1G>A, 1898+1G>A, 2183AA>G, 2184delA, 2789+5G>A, 3120+1G>A, 3659delC, 3849+4A>G, 3849+10kbC>T, 3876delA, and 3905insT

Relevance:

The Cystic Fibrosis screening test is useful in identifying couples who both carry a common CF mutation and as a result, possess a higher risk of having a child affected with CF. Mutation frequencies vary among ethnic populations and also affect risk calculations. Presence of a family history of CF may also contribute to an elevated risk of having a baby with CF.

Notes:

Variations of CF screens may be ordered:

Couple Screen - both partners submit buccal swab or whole blood (purple-top tube) for analysis.

Pre-conception Screen - both partners submit buccal swab or whole blood (purple-top tube) for analysis.

Sequential Screen - patient submits buccal swab or whole blood (purple-top tube) first; if positive (CF Carrier), office is notified to have partner submit sample.

Reference(s)

• Amos J, Feldman G, Grody W, Monaghan K, Palomaki G, Prior T, Richards C, Watson M: Technical Standards and Guidelines for CFTR Mutation Testing, 2006 Edition. Published on ACMG website. www.acmg.net.
• Watson M, Cutting G, Desnick R, Driscoll D, Klinger K, Mennuti M et al.: Cystic fibrosis population carrier screening: 2004 revision of American college of Medical Genetics mutation panel. Genet Med. 6; 5: 387-391, 2004.
• Palomaki G, FitzSimmons S, Haddow J: Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population. Genet Med. 6; 5: 405-414, 2004.
• Richards C, Haddow J: Prenatal screening for cystic fibrosis. Clin Lab Med. 23: 503-530, 2003.
• Strom C, Huang D, Buller A, Redman J, Crossley B, Anderson B, Entwistle T, Sun W: Cystic fibrosis screening using the College panel: Platform comparison and lessons learned from the first 20,000 samples. Genet Med. 4; 4: 289-296, 2002.
• Doherty R, Palomaki G, Kloza E, Erickson J, Haddow J: Couple-based Prenatal Screening for Cystic Fibrosis in Primary Care Settings. Prenatal Diagnosis. 16:397-404, 1996.