Testing for 97 cystic fibrosis mutations, including all of the mutations currently recommended by the ACMG and ACOG
A completed screening questionnaire must accompany specimens. Call 800-345-4363 to request forms, or photocopy the Cystic Fibrosis Screening Questionnaire from the Genetics Appendix online.
If cultured cells are needed, an additional 7-12 days may be required. Additional culture fee may be included.
8 - 10 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
For more information, please view the literature below.
Amniotic fluid or chorionic villus sample (CVS) (Submission of maternal blood is required for fetal testing.)
10 mL amniotic fluid or 20 mg CVS
5 mL amniotic fluid or 10 mg CVS
Sterile plastic conical tube or two confluent T-25 flasks for fetal testing
Maintain specimen at room temperature or refrigerate at 4°C
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container
LabCorp offers an expanded mutation profile of 97 mutations for cystic fibrosis for prenatal testing, diagnostic testing, and for testing in those individuals whose family history or ethnicity requires testing for less common mutations.
Cystic fibrosis (OMIM 602421) is a common genetic disorder resulting in chronic pulmonary and gastrointestinal/pancreatic disease. There is wide variability in clinical symptoms. CF is inherited in a recessive manner, which means that both parents must be carriers to have an affected child. When both parents are carriers, there is a 25% chance with each pregnancy that the child will be affected. Genetic counseling and CF molecular testing are recommended for the reproductive partners and at-risk family members of CF carriers.
This assay detects as many as 93% of cystic fibrosis carriers in the Caucasian population. Within other ethnic groups, there may be higher or lower detection efficiency.
Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis. Reflex testing of 5T is included in the panel for R117H interpretation.
Polymorphisms F508C, 1506V, and 1507V are included in this profile to rule out false positives for ΔF508 and ΔI507 homozygotes.
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|480819||Cystic Fibrosis 97, Fetal||480829||Cystic Fibrosis 97, Fetal||46989-0|
|480819||Cystic Fibrosis 97, Fetal||450047||Cystic Fibrosis Mutation PDF||51969-4|
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