Test Catalog

Test Id : CSFP

Carrier Screen, Focused Panel, Varies

Useful For
Suggests clinical disorders or settings where the test may be helpful

Expanded carrier screening for reproductive risk assessment purposes

 

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

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.

 

Highlights

This testing is intended for individuals who are currently pregnant or planning to become pregnant and their reproductive partner, to determine their risks to have children with select inherited conditions.

 

This test utilizes a targeted genotyping array to assess for over 500 genetic targets associated with serious genetic conditions.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

Targeted Genotyping Array/Polymerase Chain Reaction (PCR)

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Carrier Screen, Focused Panel

Aliases
Lists additional common names for a test, as an aid in searching

CSFP

Carrier Screen

Small Carrier Screen

Focused Panel

Carrier Screening with CF

Carrier Screening with Cystic Fibrosis

Carrier Screening with SMA

Carrier Screening with spinal muscular atrophy

Carrier Screening with hemoglobinopathies

Carrier Screening with Fragile X

Specimen Type
Describes the specimen type validated for testing

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
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

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)

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

1 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
Frozen
Refrigerated

Useful For
Suggests clinical disorders or settings where the test may be helpful

Expanded carrier screening for reproductive risk assessment purposes

 

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

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.

 

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Because an individual can be a carrier for an autosomal recessive condition without showing signs or symptoms, there is often no family history of such disorders. Therefore, without a family history, a reproductive couple may not know if they have an increased risk to have a child with a given genetic disorder. Carrier screening either before or during a pregnancy can help a reproductive couple further understand their risk to have a child with a genetic condition.

 

Carrier screening for genetic variants associated with cystic fibrosis (CF) and spinal muscular atrophy (SMA) are considered standard of care by American College of Obstetricians and Gynecologists (ACOG) and American College of Medical Genetics and Genomics (ACMG).(1,2) However, screening for CF and SMA alone would miss other common conditions. This focused test screens for select variants associated with the following conditions: alpha thalassemia, beta thalassemia, cystic fibrosis, fragile X syndrome, sickle cell anemia, and spinal muscular atrophy. It is recommended that screening tests be offered to all couples regardless of their ancestry.(2)

 

If there is a history of a genetic condition in the family, it is recommended that the at-risk partner be tested for the known variant in the family. In order to confirm that the familial variant is covered by this test, contact the laboratory to facilitate testing; call 800-533-1710.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

All reported variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(3) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

A negative result does not eliminate the risk of carrier status for any of the included conditions, due to the possibility that the patient carries a variant that is not interrogated with this assay or the rare chance of a false-negative result for a tested variant. For tested variants, the negative predictive value of this screen is greater than 98%. The patient's residual risk to be a carrier after a negative screen is dependent on ethnic background and family history.

 

A positive control was not available for all variants targeted on this panel. For more information regarding availability of a positive control for each variant see Targeted Variants Detected by Focused Carrier Screening Tests.

The negative predictive value of these targets is unknown.

 

Rare variants (ie, polymorphisms) exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.

 

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(3) This assay was designed to specifically target known pathogenic or likely pathogenic variants. In rare cases, DNA variants of undetermined significance may be identified. The laboratory encourages healthcare providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.

 

Multiple in-silico evaluation tools may have been used to assist in the interpretation of these results. Of note, the sensitivity and specificity of these tools for the determination of pathogenicity is currently unvalidated.

 

Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.

 

Bone Marrow transplants from allogenic donors will interfere with testing. Call Mayo Clinic Laboratories for instructions for testing patients who have received a bone marrow transplant.

 

An online research opportunity called GenomeConnect (genomeconnect.org), a project of ClinGen, is available for the recipient of this genetic test. This patient registry collects deidentified genetic and health information to advance the knowledge of genetic variants. Mayo Clinic is a collaborator of ClinGen. This may not be applicable for all tests.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Finucane B, Abrams L, Cronister A, Archibald AD, Bennett RL, McConkie-Rosell A: Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors. J Genet Couns. 2012 Dec;21(6):752-760

2. Carrier Testing for Cystic Fibrosis. Cystic Fibrosis Foundation; Accessed May 24, 2021. Available at www.cff.org/What-is-CF/Testing/Carrier-Testing-for-Cystic-Fibrosis/

3. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424. doi: 10.1038/gim.2015.30

4. Langfelder-Schwind E, Karczeki B, Strecker MN, et al: Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2014; 23:5-15

5. Watson MS, Cutting GR, Desnick RJ, et al: Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med. 2004;6 (5):387-391

6. Prior TW, Professional Practice and Guidelines Committee: Carrier screening for spinal muscular atrophy. Genet Med. 2008;10:840842

7. Monaghan K, Lyon E, Spector E: ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. Genet Med. 2013;15(7):575-586

8. Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet Gynecol. 2017 Mar;129(3):e41-e55. doi: 10.1097/AOG.0000000000001952

9. Sugarman EA, Nagan N, Zhu H, et al: Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet. 2012;20(1):27-32. doi:10.1038/ejhg.2011.134

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

The targeted genotyping array utilizing the Thermofisher GeneTitan platform is used to detect select variants in the following genes associated with heritable conditions: CFTR, HBA1, HBA2, HBB, SMN1. SMN2 may be reported in conjunction with relevant genotype findings.

 

A polymerase chain reaction (PCR)-based assay is used to detect expansions of a CGG trinucleotide tract in the 5'UTR of the FMR1 gene. Methylation status is not included in this assay. For details regarding the targeted mutations identified by this test see Targeted Variants Detected by Focused Carrier Screening Tests.

 

Multiplex ligation-dependent probe amplification, PCR, relative quantitative PCR, droplet digital PCR, and Sanger sequencing are used to confirm variants detected by microarray when appropriate.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

Supplemental

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Thursday, Sunday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

7 to 21 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Whole Blood: 2 weeks (if available); Extracted DNA: 3 months

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

81220

81329

81479

81257

81361

81222

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
CSFP Carrier Screen, Focused Panel In Process
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
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

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports