Cystic Fibrosis (CF) is an autosomal recessive genetic disorder characterized by chronic pulmonary disease, pancreatic insufficiency, and male infertility. The disease frequency is approximately one in 2,500 newborns, and the estimated carrier frequency in the Caucasian and Ashkenazi Jewish populations is approximately 1 in 25. This disorder is caused by mutations in two copies of the Cystic Fibrosis Transmembrane Regulator gene (CFTR). Most CFTR mutations can be identified through targeted CF mutation detection panels. For individuals who are negative for mutations by targeted mutation testing, DNA sequence analysis of the entire CFTR gene coding region is available at the Baylor Medical Genetics Laboratories.

Reasons for Referral:

• Confirmation of a clinical diagnosis of CF
• Testing of at-risk family members (known familial mutations)
• Determination of reproductive risk in partners of known CF carriers who are negative for CF mutations in clinically available mutation panels
• Prenatal Diagnosis (known familial mutations)

Testing Methodology:
PCR amplification of 27 exons contained in the CFTR gene coding region will be performed on patient genomic DNA. Direct sequencing of amplification products is performed in both the forward and reverse directions using automated fluorescence dideoxy sequencing methods.

Sensitivity:
Analytical: ~99%
Clinical: ~98%

Specimen Requirements:
Blood for DNA: EDTA (purple-top) tubes: Adults: 14 cc; Child/Infant: 6 cc
Requisition form must accompany specimen. Prior to any genetic testing, we recommend genetic counseling and request that the subject, or their legal guardian, sign our consent form and submit it with the sample. To receive our forms and information about prenatal testing, please contact our laboratory.

Turnaround Time: 4 weeks

CPT Codes and Prices:
Index: 83891, 83898X29, 83894, 83904x58, 83909x58, 83912
Known Familial Mutation: 83891, 83898, 83894, 83904x2, 83909x2, 83912

Shipping Information

Forms:
 >> Gene Sequencing Requisition
 >> DNA Requisition
 >> Prenatal Requisition

References:
1. Strom CM, Huang D, Chen C, Buller A, Peng M, Quan F, Redman J, Sun W (2003) Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test. Genet Med 2003.5: 9-14.
2. Matthew J. McGinniss, Christina Chen Joy B. Redman, Arlene Buller, Franklin Quan Mei Peng , Robert Giusti, Feras M. Hantash, Donghui Huang, Weimin Sun, Charles M. Strom Extensive Sequencing of the CFTR gene: lessons learned from the first 157 patient samples Hum Genet 2005 118:331-338.

Test Codes:
Index: 6370
Known Familial Mutation: 6371
Prenatal: 6372

Last Modified: 3-24-08