Laboratory Services
Cystic Fibrosis DNA Screen
Print this pageUpdated Test Information:
Test Description |
Cystic Fibrosis DNA Screen
|
|
---|---|---|
Synonym(s) |
UOW167, CFDNA, 5T Allele, CBAVD, CF Mutation DNA, CFTR Mutation, Congenital Bilateral Absence of the Vas Deferens, Delta F508, DNA-CF Gene Study, Intron 8, Poly(T), |
|
Test ID |
CFDNA
|
|
General Information |
Cystic fibrosis is an autosomal recessive disease caused by a defect in a gene called CFTR (cystic fibrosis transmembrane conductance regulator). This assay tests for the most common mutations in the CFTR gene, and includes all mutations in the panel recommended by the American College of Medical Genetics for general population carrier testing for cystic fibrosis (Grody et al. 2001, Richards et al. 2002, Watson et al. 2002). CFTR Intron 8 Poly(T) test can be included if requested as for CBAVD. Indications for Testing Include Carrier testing in an individual with or without family history of CF, or in the spouse of a CF carrier Evaluate suspected CF |
|
Container Type |
BLOOD: AMNIOCYTES or CULTURED CHORIONIC VILLUS CELLS: CHORIONIC VILLIS and/or TISSUE: Prenatal testing requires concomitant testing for maternal cell contamination |
|
Specimen Type |
Blood, saliva, amniocytes, chorionic villus tissue or cultured cells |
|
Specimen Requirements |
Entire specimen |
|
Alternate Specimen Type |
YELLOW TOP (ACD) tube |
|
Specimen Collection / Processing Instructions |
Ship whole blood at ambient temperature for receipt within 1 week of specimen collection. For cultured amniocytes or chorionic villus cells and for CVS or other tissue, transport and store at room temperature within 24 hours of obtaining CV or removing cultured cells from incubator. |
|
Minimum Sample Volume |
Blood: 1 mL. |
|
Additional Processing Details |
Ship whole blood at ambient temperature for receipt within 1 week of specimen collection. |
|
Stability |
Blood: Refrigerated for up to 7 days Amniocytes & cultured CVS cells: hold flasks at room temperature. Chorionic villi &/or tissue: hold at room temperature Saliva: Contact laboratory for validated collection kit. |
|
Unacceptable Specimen Conditions |
Heparin green top tubes |
|
Methodology |
Next-generation sequencing. Portions of the CFTR gene are amplified and hybridized with oligonucleotide probes for these mutations: A455E, deltaF508, deltaI507, G542X, G551D, G85E, N1303K, R1162X, R117H, R334W, R347P, R553X, R560T, W1282X, 1717-1G->A, 1898+1G->A, 2184delA, 2789+5G->A, 3120+1G->A, 3659delC, 3849+10kbC->T, 621+1G->T, 711+1G->T. Reflex testing for I506V, I507V, F508C, and 5T/7T/9T variants may also be performed in selected cases as recommended by the ACMG (Grody et al. 2001, Richards et al. 2002, Watson et al. 2002). The mutation detection rate is ~89% (Watson et al. 2004) in the overall population tested by this laboratory, which is mostly European. The mutation detection rate can be higher or lower than this for specific ethnic groups. |
|
Estimated TAT |
Within 2 weeks |
|
Testing Schedule |
Performed weekly. Results within 3 weeks |
|
CPT Code(s) |
81220 |
|
Reference Range |
No mutations detected |
|
STAT Orderable (Y/N) |
N |
|
Performing Lab |
University of Washington |
|
LOINC Code(s) |
21656-4 |
|
Additional Information |
Genetics requisition form: HERE |