Ordering Guidance

This test is specifically for carrier screening purposes and is not intended for diagnostic purposes. For diagnostic testing, order CFMP / Cystic Fibrosis, CFTR Gene, Variant Panel, Varies.

If the reproductive partner is also having this test performed, call the lab for a revised risk assessment.

Targeted testing for familial variants (also called site-specific or known mutation testing) is available for all genes on this panel under FMTT / Familial Variant, Targeted Testing, Varies. Call 800-533-1710 to obtain more information about this testing option.

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Necessary Information

If there is a family history of cystic fibrosis (CF) or spinal muscular atrophy (SMA), the known genetic variant in the family should be supplied for best interpretation of results.

Specimen Required

Specimen Type: Whole blood

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.