Our Services

CF gene sequencing detects approximately 98% of the over 1,300 disease-causing mutations that have been identified in the CFTR gene¹. Genzyme’s 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 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 for known familial mutations 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, congenital bilateral absence of the vas deferens (CBAVD); and carrier prenatal testing for parents of an affected CF child, individuals with a family history of CF and couples with identified mutations.

Full Cystic Fibrosis Gene Sequencing:

83891(1), 83898(31), 83892(31), 83909(64), 83904(64), 83912(1

Partial Cystic Fibrosis Gene Sequencing:

83891(1), 83898(1), 83892(1), 83909(2), 83904(2), 83912(1)
Each additional exon: 83898(1), 83892(1), 83909(1), 83904(2)

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.

1. Blood:
   • Adult: 10 ml whole blood in ACD-A (yellow-top) or EDTA (lavender-top) tube.
2. Dried Blood Spot:
   • Dried blood spots collected on Genzyme provided filter paper/test requisition.
   • Fill a minimum of 3 circles completely with blood.
   • Please Note: If prenatal carrier screening for cystic fibrosis is ordered in conjunction with first trimester screening all 6 circles should be filled.
   • Turnaround Time:
     2-3 weeks
3. Prenatal:
   • All prenatal specimens (including cord blood) must be accompanied by a maternal blood or mouthwash specimen for analysis of possible maternal cell contamination. Partial CF gene sequencing may be performed on amniotic fluid and direct chorionic villi samples, but back-up culture should be maintained. When ordering full CF gene sequencing for prenatal samples, cultures will be needed.
   • Discard first 2 ml; then 15 ml amniotic fluid in 15 ml orange-top polypropylene tube, 10-15 mg chorionic villi in laboratory-provided screw-top tubes with sterile transport medium or two T-25 flask of confluent fetal cells.
   • Additional sample must be obtained for back-up culture at one of our cytogenetics laboratories or another facility.
   • If additional testing is desired, more amniotic fluid is needed. For example, chromosome analysis requires an additional 15-25 ml (see Cytogenetics – Amniotic Fluid Chromosome Analysis test page) and AFAFP requires an additional 2 ml (see Amniotic Fluid Alpha-Fetoprotein - AFAFP test page).
   • Turnaround Time:
     2-3 weeks (when cell culture is required, add ~2 weeks)

Client Services: Reproductive/Genetics   800-848-4436

Specimen Services/Pickup:  877-246-1226