Prepare for visits with your doctor or a genetic counselor by learning about testing.
CFTR gene sequencing detects approximately 98% of the over 1,300 disease-causing mutations that have been identified in the CFTR gene1. Integrated Genetics' full CF gene sequencing test is direct sequence analysis of the CFTR gene, identifying every nucleotide of all 27 exons, their associated splice site regions, and clinically-relevant regions of introns including the intron 8 Poly (T) region and regions that contain disease-causing mutations. We also offer partial CF gene sequencing for families with known mutations not detectable in a general screening assay.
When mutation analysis test results are negative, or when known familial mutations are not detectable by current mutation panels, indications for full or partial CFTR gene sequencing include patients affected with classic CF symptoms, atypical CF symptoms, idiopathic chronic pancreatitis, or congenital bilateral absence of the vas deferens (CBAVD). Other indications include carrier prenatal testing for parents of an affected child, individuals with a family history of CF, and couples with identified mutations.
Full Cystic Fibrosis Gene Sequencing:
Partial Cystic Fibrosis Gene Sequencing:
Please Note: Call a laboratory genetic coordinator prior to obtaining any specimens. Prenatal testing is recommended only for carrier couples with identified mutations. In some circumstances, specimens from other family members may be required.
Client Services: Reproductive Genetics 800-848-4436
Specimen Services/Pickup: 877-246-1226