Cystic Fibrosis Carrier Screening Panel
The Cystic Fibrosis Carrier Screening Panel consists of the 61 most common cystic fibrosis (CF) mutations which includes the 23 mutations recommended by the American College of Medical Genetics (ACMG). A negative CF carrier screen significantly reduces but does not eliminate the carrier risk regardless of the number of mutations screened. The detection rate is dependent on the patient’s ethnic background.
|Ethnic Background||Detection Rate||Carrier Risk||Carrier Risk after negative CF screen|
|African-American||72.5%||1 in 65||1 in 219|
|Asian American||54.5%||1 in 90||1 in 205|
|Caucasian||90.6%||1 in 25||1 in 257|
|Hispanic||83.7%||1 in 46||1 in 350|
|Ashkenazi Jewish||95.9%||1 in 25||1 in 568|
Indications for Testing
- Preconception testing
- Early pregnancy, prior to 18 weeks to allow time for prenatal testing if desired
- Family history of CF, provide CF mutation if known
- Partner is known CF carrier/ known to be affected with CF
- Congenital bilateral absence of vas deferens (CBAVD)
- Abnormal fetal ultrasound: echogenic bowel
2-3 ml whole blood in purple top EDTA tube
Blood samples stored overnight should be refrigerated or kept cold. Blood samples should never be frozen. Specimens being sent from outside facilities should be packaged with a cold pack according to standard medical safety practices. The specimen should be shipped by overnight priority [scheduled to arrive by Friday morning at the latest].
Center for Human Genetics Laboratory
10524 Euclid Ave, Sixth Floor
Cleveland, OH 44106
For local samples, please call Client Service (216-844-5227) to arrange for sample pick-up.
Turn Around Time
Please submit a completed Molecular Requisition for each sample.