Test Code CSFP Carrier Screen, Focused Panel, Varies
Ordering Guidance
This test is specifically for carrier screening purposes and is not intended for diagnostic purposes.
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.
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.
Genetics Test Information
This panel includes testing for select disease-associated variants in 7 genes for the purpose of carrier screening. This includes testing for select variants associated with the following conditions: alpha thalassemia, beta thalassemia, cystic fibrosis, fragile X syndrome, sickle cell anemia, and spinal muscular atrophy. For more information, see Targeted Variants Detected by Focused Carrier Screening Tests.
Specimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Ambient (preferred) | ||
Frozen | |||
Refrigerated |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Day(s) Performed
Thursday, Sunday
Report Available
7 to 21 daysSpecimen Retention Time
Whole Blood: 2 weeks (if available); Extracted DNA: 3 monthsPerforming Laboratory
Mayo Clinic Laboratories in RochesterCPT Code Information
81220
81329
81479
81257
81361
81222
81479 (if appropriate for government payers)