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Genetic Carrier Screen, (CF, FXS, and SMA) with Reflex to Methylation (Temporary Delay as of 01/21/2021 - no referral available)
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Ordering Recommendation
Reproductive carrier screening for cystic fibrosis (CF), fragile X syndrome (FXS), and spinal muscular atrophy (SMA). Recommended for women who are pregnant or planning a pregnancy. Not recommended for men, as FXS carrier screening is not indicated. Do not use for diagnostic testing in patients with symptoms of CF, FXS or SMA. For CF carrier screening alone, refer to Cystic Fibrosis (CFTR) 165 Pathogenic Variants (2013661). For SMA carrier screening alone, refer to Spinal Muscular Atrophy (SMA) Copy Number Analysis) (2013436). For FXS carrier screening alone in females, refer to Fragile X (FMR1) with Reflex to Methylation Analysis (2009033).
Mnemonic
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring, Polymerase Chain Reaction/Capillary Electrophoresis, Multiplex Ligation-dependent Probe Amplification
Performed
Sun-Sat
Reported
4-14 days
New York DOH Approval Status
Specimen Required
Lavender (K2EDTA). Also acceptable: Pink (K2EDTA) or Yellow (ACD Solution A).
Transport 5 mL whole blood. (Min: 3 mL)
Refrigerated.
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. Frozen specimens in glass collection tubes.
Ambient: 1 week; Refrigerated: 1 month; Frozen: 1 month
Reference Interval
By report
Interpretive Data
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
Note
Cystic Fibrosis: The 165-variant test includes the 23 pathogenic CF variants recommended by the American College of Medical Genetics for population carrier screening.
Fragile X: If a CGG repeat of 100 or greater is detected by PCR and Capillary Electrophoresis; methylation analysis will be added. Additional charges apply.
Hotline History
Hotline History
CPT Codes
81220; 81329; 81243; if reflexed, add 81244
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 0050556 | Fragile X Allele 1 | 45321-7 |
| 0050558 | Fragile X Allele 2 | 45322-5 |
| 0050559 | Fragile X Methylation Pattern | 41107-4 |
| 0050579 | Fragile X Interpretation | 36913-2 |
| 2001310 | FRAG X Specimen | 66746-9 |
| 2013437 | SMA Copy Number, Specimen | 31208-2 |
| 2013438 | SMA Copy Number, Symptoms | 75325-1 |
| 2013439 | SMA Copy Number, SMN1 Copies | 35462-1 |
| 2013440 | SMA Copy Number, SMN2 Copies | 54449-4 |
| 2013441 | SMA Copy Number, Linked Variant | 82155-3 |
| 2013442 | SMA Copy Number, Int | 49857-6 |
| 2013675 | Cystic Fibrosis, Allele 1 | 42938-1 |
| 2013676 | Cystic Fibrosis, Allele 2 | 42939-9 |
| 2013677 | Cystic Fibrosis, 165 Variants, Interp | 21656-4 |
| 2013692 | Cystic Fibrosis 5T Variant | 21654-9 |
Aliases
- CF DNA Analysis
- CF Gene Mutation Panel
- CF Molecular Genetic Testing
- CF population carrier screening test
- Classic CF
- Cystic Fibrosis Genotyping
- Inherited Mental Retardation (Fragile X (FMR1) Diagnostic)
- Martin-Bell Syndrome (Fragile X (FMR1) Diagnostic)
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