Carrier screening for cystic fibrosis (CF), fragile X syndrome (FXS), and spinal muscular atrophy (SMA) in 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) Expanded Variant Panel (2013661). For SMA carrier screening alone, refer to Spinal Muscular Atrophy (SMA) Copy Number Analysis (2013436). For FXS carrier screening alone, refer to Fragile X (FMR1) with Reflex to Methylation Analysis (2009033).
Matrix-Assisted Laser Desorption Ionization-Time of Flight (MALDI-TOF)/Polymerase Chain Reaction/Capillary Electrophoresis/Multiplex Ligation-Dependent Probe Amplification
New York DOH Approval Status
Lavender (K2EDTA). Also acceptable: Pink (K2EDTA).
Transport 5 mL whole blood. (Min: 3 mL)
Plasma or serum. Specimens collected in sodium heparin, yellow (ACD solution A), or lithium heparin tubes. Frozen specimens in glass collection tubes.
Ambient: 1 week; Refrigerated: 1 month; Frozen: 1 month
Refer to report.
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)
Cystic Fibrosis (CF): The Cystic Fibrosis (CFTR) Expanded Variant Panel includes the 23 pathogenic CF variants recommended by the American College of Medical Genetics for population carrier screening as well as many others.
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.
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||CF Expanded Variant Panel Interp||21656-4|
|2013692||Cystic Fibrosis 5T Variant||21654-9|