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Test ID 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 Mutation, 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.


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.


1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521)

Useful For

Expanded carrier screening for reproductive risk assessment purposes


This test is not useful for clinical diagnosis of an affected individual.

Method Name

Targeted Genotyping Array/Polymerase Chain Reaction (PCR)

Reporting Name

Carrier Screen, Focused Panel

Specimen Type


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)

Reference Values

An interpretive report will be provided.

Day(s) Performed

Thursday, Sunday

Report Available

7 to 21 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information







81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CSFP Carrier Screen, Focused Panel In Process


Result ID Test Result Name Result LOINC Value
608337 Result Summary 50397-9
608338 Result 82939-0
608339 Additional Results In Process
608340 Offspring Risk In Process
608341 Clinical Summary 55752-0
608342 Additional Information 48767-8
608343 Other Identified Alleles In Process
608344 Method 85069-3
608345 Disclaimer 62364-5
608346 Specimen 31208-2
608347 Source 31208-2
608348 Released By 18771-6