Laboratory Services

Cystic Fibrosis DNA Screen

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Updated 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
Establish mutation status of CF-affected individual or obligate carrier
Evaluate male infertility due to Congenital Bilateral Absence of Vas Deferens
Follow up prenatal ultrasound findings that are suspicious for CF
Evaluate idiopathic chronic pancreatitis

Container Type

BLOOD:
Adult: 5 mL LAVENDER TOP tube
Child: 2 mL LAVENDER TOP tube


AMNIOCYTES or CULTURED CHORIONIC VILLUS CELLS:
Two (2) T23 or One (1) T75 flask (minimum 1-T25 flask)


CHORIONIC VILLIS and/or TISSUE:
In sterile tube or culture media, at least 5 mg tissue.


Prenatal testing requires concomitant testing for maternal cell contamination

Specimen Type

Blood, saliva, amniocytes, chorionic villus tissue or cultured cells

Alternate Specimen Type

YELLOW TOP (ACD) tube

Specimen Requirements

Entire specimen

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.
Amniocytes, cultured chorionic villus cells, chorionic villi or tissue: as above.

Additional Processing Details

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.

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