Ordering Guidance

Preliminary screening tests, such as complete blood cell count with peripheral smear, direct Coombs test, and pyruvate kinase enzyme activity assays (preferably as a part of EEEV1 / Red Blood Cell [RBC] Enzyme Evaluation, Blood) should be performed before ordering this test.

Targeted testing (also called site-specific or known variants testing) is available for variants identified in the PKLR gene. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.

Necessary Information

1. PKLR Gene Sequencing Patient Information is required. Testing may proceed without the patient information; however, it aids in providing a more thorough interpretation. Ordering healthcare professionals are strongly encouraged to complete the form and send it with the specimen.

2. Include healthcare professional's name and phone number with specimen.

Specimen Required

Specimen Type: Whole blood

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

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

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

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated