Genetic Carrier Screen, (CF, FXS, and SMA) with Reflex to Methylation
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). 

Polymerase Chain Reaction/Fluorescence Monitoring, Polymerase Chain Reaction/Capillary Electrophoresis, Multiplex Ligation-dependent Probe Amplification
4-14 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA). Also acceptable: Pink (K2EDTA) or Yellow (ACD Solution A). 
Specimen Preparation
Transport 5 mL whole blood. (Min: 3 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. 
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data

Statement C: 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 55 or greater is detected by PCR and Capillary Electrophoresis; methylation analysis will be added. Additional charges apply.
Hotline History
View Hotline History
CPT Code(s)
81220; 81329; 81243; if reflexed, add 81244
Component Test Code*Component Chart NameLOINC
0050556Fragile X Allele 145321-7
0050558Fragile X Allele 245322-5
0050559Fragile X Methylation Pattern41107-4
0050579Fragile X Interpretation36913-2
2001310FRAG X Specimen66746-9
2013437SMA Copy Number, Specimen31208-2
2013438SMA Copy Number, Symptoms75325-1
2013439SMA Copy Number, SMN1 Copies35462-1
2013440SMA Copy Number, SMN2 Copies54449-4
2013441SMA Copy Number, Linked Variant82155-3
2013442SMA Copy Number, Int49857-6
2013675Cystic Fibrosis, Allele 142938-1
2013676Cystic Fibrosis, Allele 242939-9
2013677Cystic Fibrosis, 165 Variants, Interp
2013692Cystic Fibrosis 5T Variant21654-9
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please view this test within the Laboratory Test Directory found at
  • 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)