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HelpTest 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 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.
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)
Useful 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.
Method Name
Targeted Genotyping Array/Polymerase Chain Reaction (PCR)
Reporting Name
Carrier Screen, Focused PanelSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Frozen | |||
| Refrigerated | |||
Clinical Information
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
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.
Clinical Reference
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
Day(s) Performed
Thursday, Sunday
Report Available
7 to 21 daysTest 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
81361
81222
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 | 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 |
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