Testing for 97 cystic fibrosis mutations, including all of the mutations currently recommended by the ACMG and ACOG
Prenatal testing: LabCorp clients should call 800-345-4363, and Integrated Genetics clients should call 800-848-4436 to speak to a laboratory genetic coordinator before collecting any specimens. In some circumstances, specimens from other family members may be required. All prenatal specimens (including cord blood) must be accompanied by a maternal blood or mouthwash specimen for maternal cell contamination studies.
7 - 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.
Whole blood; or, for LabCorp clients, buccal swab kit (kit contains collection instructions); or, for Integrated Genetics clients, mouthwash kit (kit contains collection instructions)
4 mL whole blood or LabCorp buccal swab kit (LabCorp clients only) or Integrated Genetics mouthwash kit (Integrated Genetics clients only)
Lavender-top (EDTA) tube, yellow-top (ACD-A) tube, LabCorp buccal swab kit, or Integrated Genetics mouthwash kit
Maintain at room temperature or refrigerate at 4°C.
Frozen or hemolyzed whole blood specimen; quantity not sufficient for analysis; one buccal swab; improper container; wet buccal swab
Determine affected or carrier status for 97 CF gene mutations. This assay may be used for individuals whose family history or ethnicity requires testing for less common mutations. Also available for routine screening of pregnant couples. Discriminates between ΔF508 and the following polymorphisms: F508C, I506V, and I507V.
False-positive results or false-negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, erroneous representation of family relationships, or contamination of a fetal sample with maternal cells.
DNA is isolated from the sample and tested for the 97 CF mutations listed. Regions of the CFTR gene are amplified enzymatically and subjected to a solution-phase multiplex allele-specific primer extension with subsequent hybridization to a bead array and fluorescence detection. Some mutations are then specifically identified by bidirectional dideoxysequencing.
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|450020||Cystic Fibrosis Mutation 97||450017||Ethnicity:||42784-9|
|450020||Cystic Fibrosis Mutation 97||450018||Indication:||42349-1|
|450020||Cystic Fibrosis Mutation 97||450019||Results:||21654-9|
|450020||Cystic Fibrosis Mutation 97||450021||Interpretation:||53039-4|
|450020||Cystic Fibrosis Mutation 97||450022||Comments:||38404-0|
|450020||Cystic Fibrosis Mutation 97||450023||Mutation Detection Rates||N/A|
|450020||Cystic Fibrosis Mutation 97||450024||African American Detect. Rate||N/A|
|450020||Cystic Fibrosis Mutation 97||450025||Ashkenazi Jewish Detect. Rate||N/A|
|450020||Cystic Fibrosis Mutation 97||450026||Asian Detection Rate||N/A|
|450020||Cystic Fibrosis Mutation 97||450027||Caucasian Detection Rate||N/A|
|450020||Cystic Fibrosis Mutation 97||450028||Hispanic Detection Rate||N/A|
|450020||Cystic Fibrosis Mutation 97||450029||Jewish,non-Ashkenazi Det. Rate||N/A|
|450020||Cystic Fibrosis Mutation 97||450030||Other or Mixed Ethnicity Rate||N/A|
|450020||Cystic Fibrosis Mutation 97||450031||Method/Limitations:||49549-9|
|450020||Cystic Fibrosis Mutation 97||450032||Director:||72486-4|
|450020||Cystic Fibrosis Mutation 97||450046||Mutations Analyzed:||21656-4|
|450020||Cystic Fibrosis Mutation 97||450047||Cystic Fibrosis Mutation PDF||51969-4|
|450020||Cystic Fibrosis Mutation 97||451374||Cystic Fibrosis Mutation 97||38404-0|
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