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

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Patient History for CF, FXS and SMA Carrier Screening

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Additional Technical Information
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
CF FX SMA
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
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

Lavender (K2EDTA). Also acceptable: Pink (K2EDTA) or Yellow (ACD Solution A).

Specimen Preparation

Transport 5 mL whole blood. (Min: 3 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes.

Remarks
Stability

Ambient: 1 week; Refrigerated: 1 month; Frozen: 6 months

Reference Interval

By report

Interpretive Data



Compliance Category

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

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
08/19/2019
X
N/A
CPT Codes

81220; 81329; 81243; if reflexed, add 81244

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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
2013692 Cystic Fibrosis 5T Variant 21654-9
* 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 click the sidebar link to access the Interface Map.
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)
Genetic Carrier Screen, (CF, FXS, and SMA) with Reflex to Methylation