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HelpTest 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 Required
Patient Preparation: A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing. For information about testing patients who have received a hematopoietic stem cell transplant, call 800-533-1710.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA) or 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 4 days/Frozen 4 days
Additional Information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
2. To ensure minimum volume and concentration of DNA is met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.
Specimen Type: Extracted DNA
Container/Tube:
Preferred: Screw Cap Micro Tube, 2mL with skirted conical base
Acceptable: Matrix tube, 1 mL
Collection Instructions:
1. The preferred volume is at least 100 mcL at a concentration of 75 ng/mcL.
2. Include concentration and volume on tube.
Specimen Stability Information: Frozen (preferred) 1 year/Ambient/Refrigerated
Additional Information: DNA must be extracted in a CLIA-certified laboratory or equivalent and must be extracted from a specimen type listed as acceptable for this test (including applicable anticoagulants). Our laboratory has experience with Chemagic, Puregene, Autopure, MagnaPure, and EZ1 extraction platforms and cannot guarantee that all extraction methods are compatible with this test. If testing fails, one repeat will be attempted, and if unsuccessful, the test will be reported as failed and a charge will be applied. If applicable, specific gene regions that were unable to be interrogated due to DNA quality will be noted in the report.
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)
Secondary ID
608336Useful For
Expanded carrier screening for reproductive risk assessment purposes
This test is not useful for clinical diagnosis of an affected individual.
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.
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
Method Name
Targeted Genotyping Array/Polymerase Chain Reaction (PCR)
Reporting Name
Carrier Screen, Focused PanelSpecimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Varies | |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Clinical Information
An individual may be a carrier of an autosomal recessive condition without exhibiting signs or symptoms, which is often reflected in the absence of a relevant family history. As such, a couple without a known family history may be unaware of their potential risk of having a child with a genetic condition. Carrier screening, either prior to or during pregnancy, can help couples assess their risk of having a child affected with a genetic disorder.
Carrier screening for genetic variants associated with cystic fibrosis (CF) and spinal muscular atrophy (SMA) is deemed standard practice by the American College of Obstetricians and Gynecologists and the American College of Medical Genetics and Genomics (1,2). However, screening solely for CF and SMA may overlook other prevalent conditions. This focused test identifies select variants associated with cystic fibrosis, fragile X syndrome, spinal muscular atrophy, alpha thalassemia, beta thalassemia, sickle cell anemia, and other hemoglobinopathies. It is recommended that carrier screening tests be offered to all individuals and their reproductive partners, irrespective of their ancestry (2).
For individuals with a family history of a genetic condition, testing for the previously identified familial variant is recommended. To confirm the familial variant is covered by this test and to discuss additional testing options, contact the Mayo Clinic Laboratories genetic counselors at 800-533-1710.
This assay is intended for carrier screening only and should not be used for diagnostic testing. If diagnostic testing is desired, contact the Mayo Clinic Laboratories genetic counselors at 800-533-1710 to discuss additional testing options.
Reference Values
An interpretive report will be provided.
Interpretation
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
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.
Hematopoietic stem cell transplants from allogenic donors will interfere with testing. Call Mayo Clinic Laboratories for instructions for testing patients who have received a Hematopoietic stem cell 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
1. Deignan JL, Gregg AR, Grody WW, et al. Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023;25(8):100867. doi:10.1016/j.gim.2023.100867
2. Committee Opinion No. 691. Carrier screening for genetic conditions. Obstet Gynecol. 2017;129(3):e41-e55. doi:10.1097/AOG.0000000000001952
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;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. 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
6. 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
7. Deignan JL, Astbury C, Cutting GR, et al. CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020;22(8):1288-1295. doi:10.1038/s41436-020-0822-5
8. Gregg AR, Aarabi M, Klugman S, et al. ACMG Professional Practice and Guidelines Committee: Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Oct;23(10):1793-1806. doi: 10.1038/s41436-021-01203-z
Method Description
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)
Day(s) Performed
Varies
Report Available
7 to 21 daysSpecimen Retention Time
Whole blood: 28 days (if available); Extracted DNA: 3 monthsPerforming 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. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81220
81329
81479
81257
81363
81222
81479 (if appropriate for government payers)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| CSFP | Carrier Screen, Focused Panel | 98039-1 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 608337 | Result Summary | 50397-9 |
| 608338 | Result | 82939-0 |
| 608339 | Additional Results | 82939-0 |
| 608340 | Offspring Risk | 105127-5 |
| 608341 | Clinical Summary | 55752-0 |
| 608342 | Additional Information | 48767-8 |
| 608343 | Other Identified Alleles | 48008-7 |
| 608344 | Method | 85069-3 |
| 608345 | Disclaimer | 62364-5 |
| 608346 | Specimen | 31208-2 |
| 608347 | Source | 31208-2 |
| 608348 | Released By | 18771-6 |