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Genetic Carrier Screen, (CF, FXS, and SMA) with Reflex to Methylation
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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).
Polymerase Chain Reaction/Fluorescence Monitoring, Polymerase Chain Reaction/Capillary Electrophoresis, Multiplex Ligation-dependent Probe Amplification
Sun-Sat
4-14 days
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.
Ambient: 1 week; Refrigerated: 1 month; Frozen: 6 months
By report
Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
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
81220; 81329; 81243; if reflexed, add 81244
| 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 | |
| 2013692 | Cystic Fibrosis 5T Variant | 21654-9 |
- 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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