Test Directory

This test is used for cystic fibrosis carrier screening for 97 CFTR variants.

Specimen Type: Whole Blood

Alternate Specimen Type: Saliva

Collection Container: Pale Yellow Top (ACD Solution A)

Alternate Collection Container: Oragene Dx saliva kit or Lavender Top (EDTA)

Desired Specimen Volume: 4 mL

1. Collect a pale yellow top ACD (Solution A) tube via venipuncture.

1. Transport 4 mL of whole blood in the original collection container.

Transport to the laboratory at room temperature.

• Hemolyzed specimen

See patient report.

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants, or repeat expansions. Variant classification and/or interpretation may change with time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.

• CF testing