Expanded carrier screening for reproductive risk assessment purposes
This test is not useful for clinical diagnosis of an affected individual.
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.
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.
Targeted Genotyping Array/Polymerase Chain Reaction (PCR)
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
Varies
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.
Specimen preferred to arrive within 96 hours of collection.
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.
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)
1 mL
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Frozen | |||
| Refrigerated | |||
Expanded carrier screening for reproductive risk assessment purposes
This test is not useful for clinical diagnosis of an affected individual.
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.
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.
An interpretive report will be provided.
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.
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.
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
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)
Thursday, Sunday
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.
81220
81329
81479
81257
81361
81222
81479 (if appropriate for government payers)
| 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 | 82939-0 |
| 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 |