Ordering Recommendation
Preferred test to confirm a diagnosis of Marfan syndrome (MFS) in an individual who meets clinical criteria. If clinical criteria for MFS are not met and the phenotype is one of aortic or vascular aneurysm, dissection, or rupture, refer to Aortopathy Panel, Sequencing and Deletion/Duplication (2006540) instead.
Mnemonic
FBN1 NGS
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
Within 21 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL)
Storage/Transport Temperature
Refrigerated
Unacceptable Conditions
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Remarks
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Refer to report
Compliance Category
Laboratory Developed Test (LDT)
Note
Gene Tested: FBN1
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
N/A
CPT Codes
81408, 81479
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
3004103 | Marfan Syndrome (FBN1) Specimen | |
3004104 | Marfan Syndrome (FBN1) Interpretation |
* 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
- Marfan's Syndrome
Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication